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HIROSE Shinichi  廣瀬 伸一

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Hirose Shinichi  廣瀬 伸一

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Researcher Number 60248515
Other IDs
External Links
Affiliation (Current) 2025: 福岡大学, 医学部, 教授
Affiliation (based on the past Project Information) *help 2020 – 2024: 福岡大学, 医学部, 教授
2005 – 2018: 福岡大学, 医学部, 教授
1997 – 2005: 福岡大学, 医学部, 助教授
Review Section/Research Field
Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / 広領域 / Pediatrics / Cell biology / Biological Sciences / Neuroscience in general / Biological Sciences
Except Principal Investigator
Pediatrics / Basic Section 90110:Biomedical engineering-related … More / Basic Section 48040:Medical biochemistry-related / General physiology / Laboratory animal science / Neurology Less
Keywords
Principal Investigator
てんかん / 遺伝子 / チャネル / 遺伝子改変動物 / 受容体 / BFNC / ADNFLE / 中枢神経 / 小児神経学 / GEFS+ … More / iPS細胞 / Epilepsy / 実験動物 / 熱性けいれん / チャネル病 / 小児神経 / 創薬 / 分子病態 / GEFS^+ / Channel disease / CEFS+ / ドラベ症候群 / けいれん / モデル動物 / 組換え動物 / 脳神経疾患 / 神経科学 / 神経作動薬 / 根治薬 / ハイスループットスクリーニング / ハイスルーブットスクリーニング / マウス / 細胞移植 / 脳・神経 / 応用動物 / ラット / イオンチャネル / Neurotransmitter / Transgenone / Channelopahtv / Channel / 神経伝達物質 / 睡眠 / 神経伝達 / 遺伝子組換え / チャネロパチー / febrile seizures / transgenic animals / 組み換え動物 / Pyrogenestic spasm / GPI anchor / GPIアンカー / TALEN / 遺伝子修復 / 次世代シークエンサー / エクソーム / 遺伝子変異 / 薬剤スクリーニング / iPS / フロセミド / トランスジェニック / トランスジェニックマウス / 脳神経 / ゲノム / 遺伝学 … More
Except Principal Investigator
てんかん / Ca^<2+> / Epilepsy / 遺伝子 / iPS細胞 / 細胞外電位計測 / 単一細胞解析 / 共培養 / アストロサイト / ニューロン / 微小電極 / 微小孔 / マイクロデバイス / ヒト遺伝病 / 性差 / X染色体の不活性化 / メンデル遺伝に従わないヒト遺伝病 / X染色体 / 非メンデル遺伝 / X染色体不活性化 / 性差を示す遺伝性疾患 / エピジェネティクス / アデノシン / 難治頻回部分発作重積型脳炎 / HLA / けいれん重積型急性脳症 / イオンチャネル / サイトカイン / 遺伝子解析 / HHE症候群 / 難治頻回部分発作重積型急性脳炎 / けいれん重積型(二相性)急性脳症 / 急性壊死性脳症 / 神経興奮 / 自然免疫 / 遺伝子変異 / 遺伝子多型 / 急性脳症 / Ryanodine receptor / Junctophilin / Sarcoplasmic reticulum / Excitation-contraction coupling / Cardiomyocyte / Heart / Physiology / Ca / Caストア / リアノジン受容体 / ジャンクトフィリン / 小胞体 / 興奮収縮連関 / 心筋細胞 / 心臓 / 生理学 / Neurotransmitter / Sleep / Transgenome / Channelopahty / Channel / Transgenic Animal / Model Animal / ラット / 神経伝達物質 / 睡眠 / 遺伝子組換え / チャネロパチー / チャネル / 遺伝子改変動物 / モデル動物 / 遺伝学的解析 / 小児 / プロモーター / SCN1A / 体細胞モザイク / 微小欠失 / 非翻訳領域 / Dravet症候群 / SCN1A遺伝子 / 胆汁うっ滞性新生児肝炎(NICCD) / 成人発症II型シトルリン血症(CTLN2) / NADH shuttle / malate-aspartate shuttle / aspartate-glutamate carrier / SLC25A13 / citrin / transporter / treatment / receptor / ion channel / CYP / polymorohism / gene / 個別化治療 / 脳神経疾愚 / 脳神経学 / 脳神経疾患 / 神経科学 / シグナル伝達 / ゲノム Less
  • Research Projects

    (25 results)
  • Research Products

    (493 results)
  • Co-Researchers

    (71 People)
  •  Establishment of a practical pipeline to develop drugs for intractable epilepsies based on their uncovered molecular pathomechanismsPrincipal Investigator

    • Principal Investigator
      廣瀬 伸一
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Fukuoka University
  •  Epigenetics studies of human diseases whose phenotypes do not follow Mendelian inheritance rules.

    • Principal Investigator
      Kobayashi Shin
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 48040:Medical biochemistry-related
    • Research Institution
      National Institute of Advanced Industrial Science and Technology
  •  Fundamental Research for an Innovative Drug Discovery Based on the Molecular Pathomechanisms of Refractory Epilepsy Using a Multidimensional Approach.Principal Investigator

    • Principal Investigator
      Hirose Shinichi
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Fukuoka University
  •  Device development for single-cell analysis of iPS cell-derived neurons

    • Principal Investigator
      YASUDA Takashi
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 90110:Biomedical engineering-related
    • Research Institution
      Kyushu Institute of Technology
  •  To treat refractory epilepsy with transplantation of neuros derived from iPS cells.Principal Investigator

    • Principal Investigator
      Hirose Shinichi
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  Development of molecular therapy for epilepsy using knock-in rats and artificial patient iPS cells with next generation methodologiesPrincipal Investigator

    • Principal Investigator
      Hirose shinichi
    • Project Period (FY)
      2015 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  パーソナルゲノム解析によるてんかんの分子生物学的発症機序の解明Principal Investigator

    • Principal Investigator
      廣瀬 伸一
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Fukuoka University
  •  Challgenges to refractory epilepsies with gene editing.Principal Investigator

    • Principal Investigator
      Hirose Shinichi
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  Development of innovative treatments for epilepsy based upon its molecular pathomechanisms using patient iPS cells and novel genetically engineered animals.Principal Investigator

    • Principal Investigator
      Hirose Shinichi
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  Conprehensive analysis of SCN1A noncoding region for epileptic disorders

    • Principal Investigator
      NAKAYAMA Tojo
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Comprehensive gene analysis of acute encephalopathy to elucidate its variability and commonality

    • Principal Investigator
      MIZUGUCHI Masashi
    • Project Period (FY)
      2012 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      The University of Tokyo
  •  Development of preventative measures against epilepsy using novel model animals (kick-in)Principal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  Development of genetically engineered animal models and novel therapeutic measures for human EpilepsyPrincipal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  乳児重症ミオクロニーてんかんにおける変異イオンチャネル蓄積病態の実証Principal Investigator

    • Principal Investigator
      廣瀬 伸一
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  Genetic analyses and generation of genetic engineered animals for childhood epilepsy focusing on ion channel abnormalitiesPrincipal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  Analysis of molecular biology of epilepsy

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      2004 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (S)
    • Research Field
      Neurology
    • Research Institution
      Hirosaki University
  •  てんかんの病因にシトリン欠損は関与するか

    • Principal Investigator
      小林 圭子
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Kagoshima University
  •  Physiological roles of junctional membrane complex formed by Ca^<2+> store and plasma membranes in excitation-contraction coupling of cardiac myocytes.

    • Principal Investigator
      UEHARA Akira
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      General physiology
    • Research Institution
      Fukuoka University
  •  Generation and neuro-pharmacological analysis of epilepsy model animals bearing mutations identified in human epilepsy II

    • Principal Investigator
      MITSUDOME Akihisa
    • Project Period (FY)
      2003 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Laboratory animal science
    • Research Institution
      Fukuoka University
  •  Identification of the responsible genes for childhood epilepsies targeting at channels and receptors expressed in the brainPrincipal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2003 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  哺乳動物リバースジェネティクス法を用いたてんかんの候補遺伝子の同定Principal Investigator

    • Principal Investigator
      廣瀬 伸一
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Neuroscience in general
    • Research Institution
      Fukuoka University
  •  チャネル病の作業仮説に基づく大量高速処理法によるてんかんの責任遺伝子の検索Principal Investigator

    • Principal Investigator
      廣瀬 伸一
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Fukuoka University
  •  Identification of the responsible genes for child epilepsy targeting abnormalities in the pore region of ion channels expressed in the central nerve systemPrincipal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  generation of epilepsy model animals harboring the same genetic defects identified in human epilepsyPrincipal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      広領域
    • Research Institution
      Fukuoka University
  •  Study on the topology of the GPI anchor assemblyPrincipal Investigator

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      1997 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Cell biology
    • Research Institution
      Fukuoka University

All 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 Other

All Journal Article Presentation Book Patent Other

  • [Book] Acute Encephalopathy and Encephalitis in Infancy and Its Related Disorders.2017

    • Author(s)
      Ishii A, Hirose S.
    • Total Pages
      8
    • Publisher
      Elsevier: USA
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Book] Acute Encephalopathy and Encephalitis in Infancy and Its Related Disorders.2017

    • Author(s)
      Ishii A, Hirose S.
    • Total Pages
      8
    • Publisher
      Elsevier: USA
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Book] Genetics of Epilepsy2014

    • Author(s)
      Hirose S
    • Total Pages
      31
    • Publisher
      Prog Brain Res.
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Book] Genetics of Epilepsy2014

    • Author(s)
      Hirose S
    • Total Pages
      31
    • Publisher
      Prog Brain Res.
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Book] Genetics of Epilepsy2014

    • Author(s)
      Hirose S.
    • Total Pages
      31
    • Publisher
      Progress in brain research.
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Book] Jesper's Basic Mechanisms of the Epilepsies2012

    • Author(s)
      Steinlein andOK, Kaneko S, HiroseS
    • Publisher
      Nicotinic acwtycholine receptor mutations
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Book] Nicotinic acetycholine receptor mutations2012

    • Author(s)
      steinlein OK, Kaneko S, Hirose S.
    • Publisher
      Jasper's Basic Mecjamosms of the Epilepsies
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Book] Nicotinic acetylcholine receptor mutations2012

    • Author(s)
      Steinlein OK, Kaneko S, Hirose S.
    • Publisher
      Jesper's Basic Mechanisms of the Epilepsies
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Book] Progress in genetics of severe myoclonic epilepsy in fancy. In : Fukuyama Y, Takahashi T, editors. Progress in Epileptic Disorders Biology of Seizere Susceptibility in Developing Brain. 1-32008

    • Author(s)
      Kurahashi K, Wang J, Ishii A, Fukuma G, Hamachi A, Yonetani M, Ogawa A, Ohfu M, Inoue T, Yasumoto S, Hirose S.; 2008
    • Total Pages
      734
    • Publisher
      Paris : Editions John Libbey Eurotext Montrouge
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Book] Chaptor 6 : mechanisms of calcium-associated exocytosis of striatal dopamine and DOPA release, studied by in vivo microdialysis. (Eds by Misu Yoshimi & Goshima Yoshio), pp.89-992005

    • Author(s)
      Okada Motohiro, Zhu Gang, Yoshida Shukuko, Hirose Shinichi, Kaneko Sunao
    • Total Pages
      350
    • Publisher
      Taylor & Francis ; New York
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Astrocyte Ca2+ signaling is facilitated in Scn1a+/? mouse model of Dravet syndrome2023

    • Author(s)
      Uchino Kouya、Tanaka Yasuyoshi、Ikezawa Wakana、Deshimaru Masanobu、Kubota Kaori、Watanabe Takuya、Katsurabayashi Shutaro、Iwasaki Katsunori、Hirose Shinichi
    • Journal Title

      Biochemical and Biophysical Research Communications

      Volume: 643 Pages: 169-174

    • DOI

      10.1016/j.bbrc.2022.12.084

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07784, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-20H04506
  • [Journal Article] CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate2022

    • Author(s)
      Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai YJ, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano S, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore AW, Yamakawa K.
    • Journal Title

      Scientific Reports

      Volume: 12 Issue: 1 Pages: 6505-6505

    • DOI

      10.1038/s41598-022-10715-w

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K06436, KAKENHI-PROJECT-21K07788, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
  • [Journal Article] Genetics and gene therapy in Dravet syndrome.2022

    • Author(s)
      Higurashi N, Broccoli V, Hirose S.
    • Journal Title

      Epilepsy Behav.

      Volume: 131 Pages: 108043-108043

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Journal Article] The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome.2022

    • Author(s)
      Kikuchi K, Hamano SI, Matsuura R, Nonoyama H, Daida A, Hirata Y, Koichihara R, Hirano D, Ishii A, Hirose S.
    • Journal Title

      Brain Dev

      Volume: 44(5) Issue: 5 Pages: 319-28

    • DOI

      10.1016/j.braindev.2022.01.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
  • [Journal Article] Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan.2022

    • Author(s)
      Inoue Y, Hamano SI, Hayashi M, Sakuma H, Hirose S, Ishii A, Honda R, Ikeda A, Imai K, Jin K, Kada A, Kakita A, Kato M, Kawai K, Kawakami T, Kobayashi K, Matsuishi T, Matsuo T, Nabatame S, Okamoto N, Ito S, Okumura A, Saito A, Shiraishi H, Shirozu H, Saito T, Sugano H, Takahashi Y, Yamamoto H, Fukuyama T, Kuki I.
    • Journal Title

      Epileptic Disord

      Volume: 24 Issue: 1 Pages: 82-94

    • DOI

      10.1684/epd.2021.1361

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H01038, KAKENHI-PROJECT-19H01061, KAKENHI-PROJECT-20K21573, KAKENHI-PROJECT-21K07810, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
  • [Journal Article] Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review2022

    • Author(s)
      Takeda Kanako、Miyamoto Yusaku、Yamamoto Hisako、Iwasaki Toshiyuki、Sumitomo Noriko、Takeshita Eri、Ishii Atsushi、Hirose Shinichi、Shimizu Naoki
    • Journal Title

      Pediatric Reports

      Volume: 14 Issue: 4 Pages: 386-395

    • DOI

      10.3390/pediatric14040046

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
  • [Journal Article] Establishment of autaptic culture with human-induced pluripotent stem cell-derived astrocytes2022

    • Author(s)
      Uchino Kouya、Tanaka Yasuyoshi、Kawaguchi Sayaka、Kubota Kaori、Watanabe Takuya、Katsurabayashi Shutaro、Hirose Shinichi、Iwasaki Katsunori
    • Journal Title

      iScience

      Volume: 25 Issue: 8 Pages: 104762-104762

    • DOI

      10.1016/j.isci.2022.104762

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07784, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-20H04506
  • [Journal Article] Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.2021

    • Author(s)
      Epi25 Collaborative (Shinichi Hirose, Atsushi Ishii)
    • Journal Title

      Am J Hum Genet.

      Volume: 108(10) Pages: 965-982

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Journal Article] Current medico-psycho-social conditions of patients with West syndrome in Japan.2021

    • Author(s)
      Yoshitomi S, Hamano SI, Hayashi M, Sakuma H, Hirose S
    • Journal Title

      Epileptic Disord

      Volume: 23(4) Pages: 579-89

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Journal Article] PCDH19 missense and truncating variants in PCDH19-related epilepsy.2021

    • Author(s)
      Shibata M, Ishii A, Goto A, Hirose S.
    • Journal Title

      J Hum Genet.

      Volume: 66(6) Pages: 569-78

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Journal Article] Genetics and gene therapy in Dravet syndrome2021

    • Author(s)
      Higurashi Norimichi、Broccoli Vania、Hirose Shinichi
    • Journal Title

      Epilepsy &amp; Behavior

      Volume: --- Pages: 108043-108043

    • DOI

      10.1016/j.yebeh.2021.108043

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-21K07780
  • [Journal Article] Application of induced pluripotent stem cells in epilepsy2020

    • Author(s)
      Hirose Shinichi、Tanaka Yasuyoshi、Shibata Mami、Kimura Yuichi、Ishikawa Mitsuru、Higurashi Norimichi、Yamamoto Toshiyuki、Ichise Eisuke、Chiyonobu Tomohiro、Ishii Atsushi
    • Journal Title

      Molecular and Cellular Neuroscience

      Volume: 108 Pages: 103535-103535

    • DOI

      10.1016/j.mcn.2020.103535

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-18K07802, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K15735
  • [Journal Article] Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome.2020

    • Author(s)
      Kimura Y, Tanaka Y, Shirasu N, Yasunaga S, Higurashi N, Hirose S.
    • Journal Title

      Stem Cell Res.

      Volume: 47 Pages: 101857-101857

    • DOI

      10.1016/j.scr.2020.101857

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08828, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-18K07802, KAKENHI-PROJECT-18K15735
  • [Journal Article] Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.2020

    • Author(s)
      Kobow K, Reid CA, van Vliet EA, Becker AJ, Carvill GL, Goldman AM, Hirose S, Lopes-Cendes I, Khiari HM, Poduri A, Johnson MR, Henshall DC.
    • Journal Title

      Epileptic Disord

      Volume: 22 Issue: 2 Pages: 127-41

    • DOI

      10.1684/epd.2020.1143

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Journal Article] Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy2020

    • Author(s)
      Shibata Mami、Ishii Atsushi、Goto Ayako、Hirose Shinichi
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 6 Pages: 569-578

    • DOI

      10.1038/s10038-020-00880-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
  • [Journal Article] Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion2020

    • Author(s)
      Shibata Akiko、Kasai Mariko、Terashima Hiroshi、Hoshino Ai、Miyagawa Taku、Kikuchi Kenjiro、Ishii Atsushi、Matsumoto Hiroshi、Kubota Masaya、Hirose Shinichi、Oka Akira、Mizuguchi Masashi
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 414 Pages: 116808-116808

    • DOI

      10.1016/j.jns.2020.116808

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651
  • [Journal Article] Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.2020

    • Author(s)
      Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H.
    • Journal Title

      Brain Dev.

      Volume: 42 Issue: 1 Pages: 73-76

    • DOI

      10.1016/j.braindev.2019.08.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651
  • [Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)2019

    • Author(s)
      Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
    • Journal Title

      Seizure

      Volume: 65 Pages: 118-123

    • DOI

      10.1016/j.seizure.2019.01.009

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07865
  • [Journal Article] Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene2018

    • Author(s)
      Ito Tomoshiro、Narugami Masashi、Egawa Kiyoshi、Yamamoto Hiroyuki、Asahina Naoko、Kohsaka Shinobu、Ishii Atsushi、Hirose Shinichi、Shiraishi Hideaki
    • Journal Title

      Brain Dev.

      Volume: 40 Issue: 3 Pages: 226-228

    • DOI

      10.1016/j.braindev.2017.11.007

    • NAID

      120006559004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10072, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-ORGANIZER-15H05871, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-18H02777, KAKENHI-PROJECT-16K15532
  • [Journal Article] Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.2018

    • Author(s)
      Tanaka Y, Higurashi N, Shirasu N, Yasunaga S, Moreira KM, Okano H, Hirose S
    • Journal Title

      Stem Cell Res

      Volume: 31 Pages: 11-15

    • DOI

      10.1016/j.scr.2018.06.008

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07802, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276
  • [Journal Article] Somatic mosaic deletions involving SCN1A cause Dravet syndrome2018

    • Author(s)
      Nakayama Tojo、Ishii Atsushi、Yoshida Takeshi、Nasu Hirosato、Shimojima Keiko、Yamamoto Toshiyuki、Kure Shigeo、Hirose Shinichi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 3 Pages: 657-662

    • DOI

      10.1002/ajmg.a.38596

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K15532
  • [Journal Article] Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy2018

    • Author(s)
      Bailey Julia N.、de Nijs Laurence、Bai Dongsheng、Suzuki Toshimitsu、Miyamoto Hiroyuki、Yamakawa Kazuhiro、Lakaye Bernard、Delgado-Escueta Antonio V. et al.
    • Journal Title

      New England Journal of Medicine

      Volume: 378 Issue: 11 Pages: 1018-1028

    • DOI

      10.1056/nejmoa1700175

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25253073, KAKENHI-PROJECT-18K07577, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features2018

    • Author(s)
      Okumura Akihisa、Maruyama Koichi、Shibata Mami、Kurahashi Hirokazu、Ishii Atsushi、Numoto Shingo、Hirose Shinichi、Kawai Tomoko、Iso Manami、Kataoka Shinsuke、Okuno Yusuke、Muramatsu Hideki、Kojima Seiji
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 10 Pages: 926-930

    • DOI

      10.1016/j.braindev.2018.06.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276
  • [Journal Article] CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.2018

    • Author(s)
      Hayashida T, Saito Y, Ishii A, Yamada H, Itakura A, Minato T, Fukuyama T, Maegaki Y, Hirose S.
    • Journal Title

      Brain Dev.

      Volume: 40(2) Issue: 2 Pages: 130-3

    • DOI

      10.1016/j.braindev.2017.08.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene2018

    • Author(s)
      Tanaka Yasuyoshi、Sone Takefumi、Higurashi Norimichi、Sakuma Tetsushi、Suzuki Sadafumi、Ishikawa Mitsuru、Yamamoto Takashi、Mitsui Jun、Tsuji Hitomi、Okano Hideyuki、Hirose Shinichi
    • Journal Title

      Stem Cell Research

      Volume: 28 Pages: 100-104

    • DOI

      10.1016/j.scr.2018.01.036

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K06924, KAKENHI-PROJECT-26461552, KAKENHI-PROJECT-16K18478, KAKENHI-PROJECT-26860833, KAKENHI-PROJECT-18K07802, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.2018

    • Author(s)
      Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K.
    • Journal Title

      Brain Dev.

      Volume: 40(7) Issue: 7 Pages: 576-81

    • DOI

      10.1016/j.braindev.2018.03.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276
  • [Journal Article] Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.2017

    • Author(s)
      Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S.
    • Journal Title

      PLoS ONE.

      Volume: 12(7) Issue: 7 Pages: e0180485-e0180485

    • DOI

      10.1371/journal.pone.0180485

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.2017

    • Author(s)
      Ishii A, Watkins JC, Chen D, Hirose S, Hammer MF.
    • Journal Title

      Epilepsia.

      Volume: 58 Issue: 2 Pages: 282-290

    • DOI

      10.1111/epi.13639

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] Abnormal gamma-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.2017

    • Author(s)
      Uchida T, Lossin C, Ihara Y, Deshimaru M, Yanagawa Y, Koyama S, Hirose S.
    • Journal Title

      Epilepsia.

      Volume: 58(8) Issue: 8 Pages: 1430-9

    • DOI

      10.1111/epi.13807

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-PROJECT-26290002, KAKENHI-ORGANIZER-15H05871, KAKENHI-PUBLICLY-17H05550, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-26870781
  • [Journal Article] Integrative Approach with Electrophysiological and Theoretical Methods Reveals a New Role of S4 Positively Charged Residues in PKD2L1 Channel Voltage-Sensing2017

    • Author(s)
      Numata Tomohiro、Tsumoto Kunichika、Yamada Kazunori、Kurokawa Tatsuki、Hirose Shinichi、Nomura Hideki、Kawano Mitsuhiro、Kurachi Yoshihisa、Inoue Ryuji、Mori Yasuo
    • Journal Title

      Sci. Rep.

      Volume: 7 Issue: 1 Pages: 9760-9760

    • DOI

      10.1038/s41598-017-10357-3

    • NAID

      120006364088

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K08494, KAKENHI-PROJECT-16KT0194, KAKENHI-PROJECT-16K15532, KAKENHI-PLANNED-26111004, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-15H04678, KAKENHI-PROJECT-15K08197, KAKENHI-PROJECT-26461217, KAKENHI-PROJECT-17H04018
  • [Journal Article] New Genes for Epilepsy - Autism Comorbidity.2017

    • Author(s)
      Ishii A, Hirose S.
    • Journal Title

      J Pediatr Neurol.

      Volume: 15 Issue: 03 Pages: 105-14

    • DOI

      10.1055/s-0037-1602822

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.2017

    • Author(s)
      Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S.
    • Journal Title

      J Med Genet.

      Volume: 54 Issue: 3 Pages: 202-211

    • DOI

      10.1136/jmedgenet-2016-104083

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] Two mild cases of Dravet syndrome with truncating mutation of SCN1A.2017

    • Author(s)
      Takaori T, Kumakura A, Ishii A, Hirose S, Hata D.
    • Journal Title

      Brain Dev.

      Volume: 39(1) Issue: 1 Pages: 72-4

    • DOI

      10.1016/j.braindev.2016.07.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] Vagus nerve stimulation for genetic epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness.2017

    • Author(s)
      Hanaya R, Niantiarno FH, Kashida Y, Hosoyama H, Maruyama S, Otsubo T, Tanaka K, Ishii A, Hirose S, Arita K.
    • Journal Title

      Epilepsy Behav Case Rep.

      Volume: 7 Pages: 16-9

    • DOI

      10.1016/j.ebcr.2016.11.001

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.2017

    • Author(s)
      Saito T, Ishii A, Sugai K, Sasaki M, Hirose S.
    • Journal Title

      Clin Genet.

      Volume: 92(6) Issue: 6 Pages: 654-8

    • DOI

      10.1111/cge.13049

    • Data Source
      KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-15H02548
  • [Journal Article] Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations2016

    • Author(s)
      Yukiko Ihara, Yuko Tomonoh, Masanobu Deshimaru, Bo Zhang, Taku Uchida, Atsushi Ishii, Shinichi Hirose
    • Journal Title

      PLoS One

      Volume: 11 Issue: 2 Pages: e0150095-e0150095

    • DOI

      10.1371/journal.pone.0150095

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26870781, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-26460664, KAKENHI-PROJECT-16K15532
  • [Journal Article] SCN8A encephalopathy: Research progress and prospects.2016

    • Author(s)
      Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE.
    • Journal Title

      Epilepsia

      Volume: 57(7) Issue: 7 Pages: 1027-1035

    • DOI

      10.1111/epi.13422

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.2016

    • Author(s)
      Ju J, Hirose S, Shi XY, Ishii A, Hu LY, Zou LP.
    • Journal Title

      Orphanet J Rare Dis.

      Volume: 11(1) Issue: 1 Pages: 55-55

    • DOI

      10.1186/s13023-016-0438-7

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes.2015

    • Author(s)
      Shi XY, Tomonoh Y, Wang WZ, Ishii A, Higurashi N, et al.
    • Journal Title

      Brain Dev

      Volume: 38 Issue: 1 Pages: 40-46

    • DOI

      10.1016/j.braindev.2015.06.008

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461552, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] JNK is critical for the development of Candida albicans-induced vascular lesions in a mouse model of Kawasaki disease.2015

    • Author(s)
      Yoshikane Y, Koga M, Imanaka-Yoshida K, Cho T, Yamamoto Y, Yoshida T, Hashimoto J, Hirose S, Yoshimura K.
    • Journal Title

      Cardiovasc Pathol.

      Volume: 24(1) Issue: 1 Pages: 33-40

    • DOI

      10.1016/j.carpath.2014.08.005

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24390087, KAKENHI-PROJECT-24592791, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures.2015

    • Author(s)
      Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
    • Journal Title

      PLoS ONE

      Volume: 10(3) Issue: 3 Pages: e0118946-e0118946

    • DOI

      10.1371/journal.pone.0118946

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-26740025, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-25670481
  • [Journal Article] JNK is critical for the development of Candida albicans-induced vascular lesions in a mouse model of Kawasaki disease.2015

    • Author(s)
      Yoshikane Y, Koga M, Imanaka-Yoshida K, Cho T, Yamamoto Y, Yoshida T, Hashimoto J, Hirose S, K. Y.
    • Journal Title

      Cardiovasc Pathol.

      Volume: 248(1) Pages: 33-40

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Trans-Golgi protein p230/golgin-245 is involved in phagophore formation2015

    • Author(s)
      Sohda M, Misumi Y, Ogata S, Sakisaka S, Hirose S, Ikehara Y and Oda K
    • Journal Title

      Biochem. Biophys. Res Commun.

      Volume: 456 Issue: 1 Pages: 275-281

    • DOI

      10.1016/j.bbrc.2014.11.071

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-23570149, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] A case of recurrent encephalopathy with SCN2A missense mutation.2015

    • Author(s)
      Fukasawa T, Kubota T, Negoro T, Saitoh M, Mizuguchi M, Ihara Y, Ishii A, Hirose S.
    • Journal Title

      Brain Dev

      Volume: 37(6) Issue: 6 Pages: 631-4

    • DOI

      10.1016/j.braindev.2014.10.001

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-15H04872
  • [Journal Article] Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.2015

    • Author(s)
      Saitoh M, Ishii A, Ihara Y, Hoshino A, Terashima H, Kubota M, Kikuchi K, Yamanaka G, Amemiya K, Hirose S, Mizuguchi M.
    • Journal Title

      Epilepsy Res

      Volume: 117. Pages: 1-6

    • DOI

      10.1016/j.eplepsyres.2015.08.001

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-15H04872, KAKENHI-PROJECT-25670481
  • [Journal Article] Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.2015

    • Author(s)
      Higurashi N, Takahashi Y, Kashimada A, Sugawara Y, Sakuma H, Tomonoh Y, Inoue T, Hoshina M, Satomi R, Ohfu M, Itomi K, Takano K, KIrino T, Hirose S.
    • Journal Title

      Brain Dev.

      Volume: 27 Pages: 1-5

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.2015

    • Author(s)
      Kano S, Yuan M, Cardarelli RA, Maegawa G, Higurashi N, et al.
    • Journal Title

      Currrent Molecular Medicine

      Volume: 15 Issue: 2 Pages: 138-145

    • DOI

      10.2174/1566524015666150303110300

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24791095, KAKENHI-PROJECT-26461552, KAKENHI-PROJECT-15H02548
  • [Journal Article] Clinical and genetic features of acute encephalopathy in children taking theophylline.2015

    • Author(s)
      Saitoh M, Shinohara M, Ishii A, Ihara Y, Hirose S, Shiomi M, Kawawaki H, Kubota M, Yamagata T, Miyamoto A, Yamanaka G, Amemiya K, Kikuchi K, Kamei A, Akasaka M, Anzai Y, Mizuguchi M.
    • Journal Title

      Brain Dev

      Volume: 37 Issue: 5 Pages: 463-70

    • DOI

      10.1016/j.braindev.2014.07.010

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-15H04872, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-24390258
  • [Journal Article] Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.2015

    • Author(s)
      Higurashi N, Takahashi Y, Kashimada A, Sugawara Y, Sakuma H, Tomonoh Y, Inoue T, Hoshina M, Satomi R, Ohfu M, Itomi K, Takano K, Kirino T, Hirose S.
    • Journal Title

      Seizure

      Volume: 27 Pages: 1-5

    • DOI

      10.1016/j.seizure.2015.02.006

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24791095, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-26461552, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-25670481
  • [Journal Article] Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).2015

    • Author(s)
      Tada H, Takanashi J, Okuno H, Kubota M, Yamagata T, Kawano G, Shiihara T, Hamano S, Hirose S, Hayashi T, Osaka H, Mizuguchi M.
    • Journal Title

      NEUROL SCI.

      Volume: 358(1-2) Issue: 1-2 Pages: 62-5

    • DOI

      10.1016/j.jns.2015.08.016

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-15H04872, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-25670481
  • [Journal Article] Ring Chromosome 20 Syndrome and Epilepsy.2015

    • Author(s)
      Ishii A, Hirose S.
    • Journal Title

      J Pediatr Epilepsy.

      Volume: 4 Issue: 01 Pages: 47-52

    • DOI

      10.1055/s-0035-1554792

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-25670481
  • [Journal Article] Development of a mouse model of infantile spasms induced by N-methyl-d-aspartate.2015

    • Author(s)
      Shi XY, Yang XF, Tomonoh Y, Hu LY, Ju J, Hirose S, Zou LP.
    • Journal Title

      Epilepsy Res.

      Volume: 118 Pages: 29-33

    • DOI

      10.1016/j.eplepsyres.2015.09.014

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-25670481
  • [Journal Article] Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.2014

    • Author(s)
      Sasaki M, Ishii A, Saito Y, Hirose S.
    • Journal Title

      Movement disorders

      Volume: 29 Issue: 1 Pages: 153-154

    • DOI

      10.1002/mds.25659

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-221S0002
  • [Journal Article] Distinct neurological disorders with ATP1A3 mutations.2014

    • Author(s)
      Heinzen, E.L.*, Arzimanoglou, A., Brashear, A., Clapcote, S.J., Gurrieri, F., Goldstein, D.B., Johannesson, S.H., Mikati, M.A., Neville, B., Nicole, S., Ozelius, L.J., Poulsen, H., Schyns, T., Sweadner, K.J., van den Maagdenberg, A., Vilsen, B., the ATP1A3 Working Group (included Ikeda, K.).
    • Journal Title

      Lancet Neurol.

      Volume: 13 Issue: 5 Pages: 503-514

    • DOI

      10.1016/s1474-4422(14)70011-0

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23590224, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-26461284, KAKENHI-PROJECT-221S0002
  • [Journal Article] The kick-in system: a novel rapid knock-in strategy.2014

    • Author(s)
      Tomonoh, Y., Deshimaru, M., Araki, K., Miyazaki, Y., Arasaki, T., Tanaka, Y., Kitamura, H., Mori, F., Wakabayashi, K., Yamashita, S., Saito, R., Itoh, M., Uchida, T., Yamada, J., Migita, K., Ueno, S., Kitaura, H., Kakita, A., Lossin, C., Takano, Y., Hirose, S.
    • Journal Title

      PLoS One.

      Volume: 9 Issue: 2 Pages: 88549-88549

    • DOI

      10.1371/journal.pone.0088549

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23310135, KAKENHI-PUBLICLY-24115712, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24659505, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-25670663, KAKENHI-PROJECT-25870252, KAKENHI-PROJECT-23590706
  • [Journal Article] Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy2014

    • Author(s)
      Inoue T, Ihara Y, Tomonoh Y, Nakamura N, Ninomiya S, Fujita T, Ideguchi H, Yasumoto S, Zhang B, Hirose S
    • Journal Title

      Brain Dev

      Volume: 36 Issue: 7 Pages: 613-619

    • DOI

      10.1016/j.braindev.2013.08.009

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590699, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-26460664
  • [Journal Article] Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.2014

    • Author(s)
      Naoko H. Tomioka, Hiroki Yasuda, Hiroyuki Miyamoto, Minoru Hatayama, Naoko Morimura, Yoshifumi Matsumoto, Toshimitsu Suzuki, Maya Odagawa, Yuri S. Odaka, Yoshimi Iwayama, Ji Won Um, Jaewon Ko, Yushi Inoue, Sunao Kaneko, Shinichi Hirose, Kazuyuki Yamada, Takeo Yoshikawa, Kazuhiro Yamakawa, Jun Aruga
    • Journal Title

      Nature Communications

      Volume: 5 Issue: 1 Pages: 45011-16

    • DOI

      10.1038/ncomms5501

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23500461, KAKENHI-ORGANIZER-24116001, KAKENHI-PLANNED-24116002, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24621012, KAKENHI-PUBLICLY-25110736, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25640026, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-26430003
  • [Journal Article] Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.2014

    • Author(s)
      Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S.
    • Journal Title

      Pediatr Int.

      Volume: 56(4) Issue: 4

    • DOI

      10.1111/ped.12383

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] Obesity attenuates D2 autoreceptor-mediated inhibition of putative ventral tegmental area dopaminergic neurons.2014

    • Author(s)
      Koyama S, Mori M, Kanamaru S, Sazawa T, Miyazaki A, Terai H, Hirose S.
    • Journal Title

      Physiol Rep

      Volume: 2(5) Issue: 5 Pages: 1-10

    • DOI

      10.14814/phy2.12004

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25350166, KAKENHI-PROJECT-25670481
  • [Journal Article] Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome.2014

    • Author(s)
      Kouga T, Shimbo H, Iai M, Yamashita S, Ishii A, Ihara Y, Hirose S, Yamakawa K, Osaka H.
    • Journal Title

      Brain & Development

      Volume: 印刷中 Issue: 2 Pages: 243-9

    • DOI

      10.1016/j.braindev.2014.04.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-15H02548
  • [Journal Article] A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.2014

    • Author(s)
      Jingami N, Matsumoto R, Ito H, Ishii A, Ihara Y, Hirose S, Ikeda A, Takahashi R.
    • Journal Title

      Epileptic Disord

      Volume: 16(2) Issue: 2 Pages: 227-31

    • DOI

      10.1684/epd.2014.0657

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-26293209
  • [Journal Article] Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam.2014

    • Author(s)
      Maeda T, Shimizu M, Sekiguchi K, Ishii A, Ihara Y, Hirose S, Izumi T.
    • Journal Title

      Pediatr Neurol

      Volume: 51(2) Issue: 2 Pages: 259-61

    • DOI

      10.1016/j.pediatrneurol.2014.04.004

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] Oral mexiletine for lidocaine-responsive neonatal epilepsy.2013

    • Author(s)
      Nakazawa M, Okumura A, Niijima S, Yamashita S, Shimono K, Hirose S, Shimizu T.
    • Journal Title

      Brain Dev.

      Volume: 35 Issue: 7 Pages: 667-669

    • DOI

      10.1016/j.braindev.2012.10.011

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708
  • [Journal Article] PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.2013

    • Author(s)
      Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S
    • Journal Title

      Epilepsy research.

      Volume: vol.106 Pages: 191-199

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Oral mexiletine for lidocaine-responsive neonatal epilepsy.2013

    • Author(s)
      Nakazawa M, Okumura A, Niijima S, Yamashita S, Shimono K, Hirose S, ShimizuT.
    • Journal Title

      Brain & development.

      Volume: vol.35(7) Pages: 667-669

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures.2013

    • Author(s)
      Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
    • Journal Title

      J Pharmacol Sci

      Volume: 121 Pages: 84-87

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Journal Article] Detection of SCN1A mutations in patients with severe myclonic epilepsy in infancy by custom resequence array.2013

    • Author(s)
      Sugawara T, Yoshida S, Onodera N, Wada K, Hirose S, Kaneko S.
    • Journal Title

      Journal of Epileptology.

      Volume: 21 Pages: 5-13

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Journal Article] The effect of SCN1A mutations on patient-derived GABAergic neurons: what are the implications for future Dravet syndrome therapeutics?2013

    • Author(s)
      Higurashi N, Okano H, Hirose S.
    • Journal Title

      Future Neurol

      Volume: 8 Issue: 5 Pages: 487-489

    • DOI

      10.2217/fnl.13.34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24791095, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] A human Dravet syndrome model from patient induced pluripotent stem cells.2013

    • Author(s)
      Higurashi N, Uchida T, Lossin C, Misumi Y, Okada Y, Akamatsu W, Imaizumi Y, Zhang B, Nabeshima K, Mori MX, Katsurabayashi S, Shirasaka Y, Okano H, Hirose S.
    • Journal Title

      Mol Brain

      Volume: 6 Issue: 1 Pages: 19-19

    • DOI

      10.1186/1756-6606-6-19

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689006, KAKENHI-PROJECT-23570149, KAKENHI-PROJECT-23590699, KAKENHI-PROJECT-23618010, KAKENHI-PROJECT-23689017, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24791095, KAKENHI-PUBLICLY-25110730, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25640038, KAKENHI-PROJECT-25670481
  • [Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013

    • Author(s)
      Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
    • Journal Title

      PLoS One

      Volume: 8 Issue: 2 Pages: e56120-e56120

    • DOI

      10.1371/journal.pone.0056120

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22129001, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002, KAKENHI-PLANNED-22129008
  • [Journal Article] SCN1A testing for epilepsy: application in clinical practice.2013

    • Author(s)
      Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF, Genetics Commission of the International League Against E.
    • Journal Title

      Epilepsia

      Volume: 54 Issue: 5 Pages: 946-952

    • DOI

      10.1111/epi.12168

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.2013

    • Author(s)
      Ishii A, et al
    • Journal Title

      Brain and Development

      Volume: 35 Issue: 6 Pages: 524-30

    • DOI

      10.1016/j.braindev.2012.09.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24591531, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner2013

    • Author(s)
      Yuki Nakamura, Xiuyu Shi, Tomohiro Numata, Yasuo Mori, Ryuji Inoue, Christoph Lossin, Tallie Z. Baram, Shinichi Hirose
    • Journal Title

      PLoS One

      Volume: 8(12) Issue: 12 Pages: e80376-e80376

    • DOI

      10.1371/journal.pone.0080376

    • Peer Reviewed
    • Data Source
      KAKENHI-ORGANIZER-22136001, KAKENHI-PLANNED-22136008, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24390054, KAKENHI-PROJECT-24590275, KAKENHI-PROJECT-24791096, KAKENHI-PUBLICLY-25129708, KAKENHI-PUBLICLY-25136708, KAKENHI-PROJECT-25670481
  • [Journal Article] Detection of SCN1A mutations in patients with severe myclonic epilepsy in infancy by custom resequence array.2013

    • Author(s)
      Sugawara T, Yoshida S, Onodera N, Wada K, Hirose S, Kaneko S.
    • Journal Title

      Journal of Epileptology.

      Volume: 21 Pages: 5-13

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Journal Article] Current Trends in Dravet syndrome Research.2013

    • Author(s)
      Higurashi N, Uchida T, Hirose S, Okano H.
    • Journal Title

      J Neurol Neurophysiol.

      Volume: vol.4(3) Pages: 152-152

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures.2013

    • Author(s)
      Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
    • Journal Title

      J Pharmacol Sci.

      Volume: 121 Pages: 84-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Journal Article] A case of severe progressive early-onset epileptic encephalopathy: unique GABAergic interneuron distribution and imagings2013

    • Author(s)
      Inoue T, Kawawakia H, Kuki I, Nabatame S, Tomonoh Y, Sukigara S, Horino A, Nukui M, Okazaki S, Tomiwa K, Kimura-Ohba S, Inoue T, Hirose S, Shiomi M, Itoh M.
    • Journal Title

      J Neurol Sci

      Volume: 327 Issue: 1-2 Pages: 65-72

    • DOI

      10.1016/j.jns.2013.01.038

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22659197, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
  • [Journal Article] PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.2013

    • Author(s)
      Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S.
    • Journal Title

      Epilepsy Res

      Volume: 106 Issue: 1-2 Pages: 191-199

    • DOI

      10.1016/j.eplepsyres.2013.04.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24791095, KAKENHI-PUBLICLY-25129708
  • [Journal Article] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.2013

    • Author(s)
      Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.
    • Journal Title

      Gene

      Volume: 531 Issue: 2 Pages: 467-71

    • DOI

      10.1016/j.gene.2013.08.096

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708
  • [Journal Article] Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array2013

    • Author(s)
      Sugawara T, Yoshida S, Onodera N, Wada K, Hirose S, Kaneko S.
    • Journal Title

      Journal of Epileptology

      Volume: vol.21 Pages: 5-13

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Properties of a novel GABAA receptor gamma2 subunit mutation associated with seizures.2013

    • Author(s)
      Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
    • Journal Title

      J Pharmacol Sci.

      Volume: 121(1) Pages: 84-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Journal Article] A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).2013

    • Author(s)
      Yamada J, Zhu G, Okada M, Hirose S,
    • Journal Title

      Epilepsy Res.

      Volume: 107 Issue: 1-2 Pages: 127-137

    • DOI

      10.1016/j.eplepsyres.2013.08.018

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390224, KAKENHI-PROJECT-23590276, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24790336, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-23590706
  • [Journal Article] Properties of a Novel GABA<sub>A</sub> Receptor &gamma;<sub>2</sub> Subunit Mutation Associated With Seizures2013

    • Author(s)
      Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
    • Journal Title

      J Pharmacol Sci

      Volume: 121 Issue: 1 Pages: 84-87

    • DOI

      10.1254/jphs.12222SC

    • NAID

      10031147590

    • ISSN
      1347-8613, 1347-8648
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-25670481
  • [Journal Article] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.2013

    • Author(s)
      Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.
    • Journal Title

      Gene

      Volume: vol.531 Pages: 467-471

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Journal Article] Current Trends in Dravet syndrome Research.2013

    • Author(s)
      Higurashi N, Uchida T, Hirose S, Okano H.
    • Journal Title

      J Neurol Neurophysiol.

      Volume: 4 Issue: 03 Pages: 152-152

    • DOI

      10.4172/2155-9562.1000152

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24791095, KAKENHI-PUBLICLY-25129708
  • [Journal Article] ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus2013

    • Author(s)
      Shinohara M, Saitoh M, Nishizawa D, Ikeda K, Hirose S, Takanashi J, Takita J, Kikuchi K, et al
    • Journal Title

      Neurology

      Volume: 80 Issue: 17 Pages: 1571-1576

    • DOI

      10.1212/wnl.0b013e31828f18d8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390269, KAKENHI-PROJECT-23390377, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24390258, KAKENHI-PROJECT-24659491, KAKENHI-PROJECT-24659549, KAKENHI-PUBLICLY-25116532, KAKENHI-PUBLICLY-25119509, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25282221, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-22591176
  • [Journal Article] Clinical spectrum of SCN2A mutations.2012

    • Author(s)
      Shi X, Yasumoto S, Kurahashi H, Nakagawa E, Fukasawa T, Uchiya S, Hirose S.
    • Journal Title

      Brain Dev.

      Volume: 34(7) Pages: 541-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Journal Article] Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.2012

    • Author(s)
      Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S,Epilepsy Genetic Study Group J.
    • Journal Title

      Epilepsy Res.

      Volume: 102(3) Issue: 3 Pages: 195-200

    • DOI

      10.1016/j.eplepsyres.2012.06.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060
  • [Journal Article] Clinical spectrum of SCN2A mutations.2012

    • Author(s)
      Shi X, Yasumoto S, Kurahashi H, Nakagawa E, Fukasawa T, Uchiya S, Hirose S.
    • Journal Title

      Brain Dev.

      Volume: 34(7) Pages: 541-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familialinfantile convulsions.2012

    • Author(s)
      Ono S, Yoshiura K , KinoshitaA, Kikuchi T, Nakane Y, Kato N,Sadamatsu M , Konishi T , Nagamitsu S , Matsuura M, Yasuda A, KomineM, Kanai K , Inoue T , Osamura T , Saito K , Hirose S, Koide H, Tomita H , Ozawa H , Niikawa N and Kurotaki N.
    • Journal Title

      J Hum Genet

      Volume: 57 Issue: 5 Pages: 1-4

    • DOI

      10.1038/jhg.2012.23

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24659535, KAKENHI-PROJECT-22591263, KAKENHI-PLANNED-22132004, KAKENHI-PLANNED-24116007
  • [Journal Article] PCDH19 Mutation in Japanese Females with Epilepsy2012

    • Author(s)
      Higurashi N, Shi X, Yasumoto S, Oguni K, Itomi K, Miyamoto A, Shirishi H, Kato T, Makita Y, Hirose S.
    • Journal Title

      Epilepsy Res

      Volume: 99 Issue: 1-2 Pages: 28-37

    • DOI

      10.1016/j.eplepsyres.2011.10.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-22791011, KAKENHI-PROJECT-23591488, KAKENHI-PROJECT-23659529
  • [Journal Article] A Novel Mutation of Human Liver Alanine:Glyoxylate Aminotransferase Causes Primary Hyperoxaluria Type 1: Immunohistochemical Quantification and Subcellular Distribution2012

    • Author(s)
      Kawai C, Minatogawa Y, Akiyoshi H, Hirose S, Suehiro T, Tone S
    • Journal Title

      ACTA HISTOCHEMICA ET CYTOCHEMICA

      Volume: 45 Issue: 2 Pages: 121-129

    • DOI

      10.1267/ahc.11042

    • NAID

      130001854237

    • ISSN
      0044-5991, 1347-5800
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23570083, KAKENHI-PROJECT-23659529
  • [Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome withmissense mutation.2012

    • Author(s)
      Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko S, Hirose S.
    • Journal Title

      Brain Dev

      Volume: 34(8) Pages: 617-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome withmissense mutation2012

    • Author(s)
      Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko S, Hirose S
    • Journal Title

      Brain Dev

      Volume: 99 Pages: 27-38

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Diagnosing nocturnal frontal lobe epilepsy: A case study of two children2011

    • Author(s)
      Tomonoh Y, Yasumoto S, Ihara Y, Fujita T, Nakamura N, Ninomiya S, Kodama R, Ideguchi H, Inoue T, Mitsudome A, Hirose S
    • Journal Title

      Seizure

      Volume: 20(7) Issue: 7 Pages: 583-5

    • DOI

      10.1016/j.seizure.2011.03.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency2011

    • Author(s)
      Yamakawa Y, Nakazawa T, Ishida A, Saito N, Komatsu M, Matsubara T, Obinata K, Hirose S, Okumura A, Shimizu T.
    • Journal Title

      Brain Dev

      Volume: 34(2) Issue: 2 Pages: 107-12

    • DOI

      10.1016/j.braindev.2011.05.003

    • NAID

      10031049740

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-24249060
  • [Journal Article] Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.2011

    • Author(s)
      Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S
    • Journal Title

      J Hum Genet

      Volume: 56(8) Issue: s2 Pages: 609-12

    • DOI

      10.1111/j.1528-1167.2011.03002.x

    • NAID

      10030660618

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] Early-onset absence epilepsy at eight months of age2011

    • Author(s)
      Kobayashi Y, Akasaka N, Ohashi T, SaitohS, Tomonoh Y, Hirose S, Tohyama J
    • Journal Title

      Epileptic Disord.

      Volume: 13(4) Pages: 417-21

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Early-onset absence epilepsy at eight months of age2011

    • Author(s)
      Kobayashi Y, Akasaka N, Ohashi T, Saitoh S, Tomonoh Y, Hirose S, Tohyama J.2011
    • Journal Title

      Epileptic Disord

      Volume: 13(4) Pages: 417-21

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Genetics of temporal lobe epilepsy2011

    • Author(s)
      Hwang SK, HIROSE S
    • Journal Title

      Brain Dev

      Volume: (in press) Issue: 8 Pages: 609-616

    • DOI

      10.1016/j.braindev.2011.10.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Autosomal dominant nocturnal frontal lobe epilepsy : a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation2011

    • Author(s)
      Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S.2011
    • Journal Title

      J Hum Genet

      Volume: 56(8) Issue: 8 Pages: 609-12

    • DOI

      10.1038/jhg.2011.69

    • NAID

      10030660618

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Early-onset absence epilepsy at eight months of age.2011

    • Author(s)
      Kobayashi Y, Akasaka N, Ohashi T,Saitoh S, Tomonoh Y, Hirose S, Tohyama J.
    • Journal Title

      Epileptic Disord

      Volume: 13(4) Pages: 417-21

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Journal Article] Clinical spectrum of SCN2A mutations2011

    • Author(s)
      Shi X, Yasumoto S, Kurahashi K,Nakagawa E, Fukasawa T, Uchiya S, Hirose S
    • Journal Title

      Brain Dev

      Volume: 34(7) Issue: 7 Pages: 541-5

    • DOI

      10.1016/j.braindev.2011.09.016

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome2011

    • Author(s)
      Sakauchi M,Oguni H, Kato I, Osawa M, Hirose S, Kaneko S, Takahashi Y, Takayama R, Fujiwara T
    • Journal Title

      Epilepsia

      Volume: 52(6) Issue: 6 Pages: 1144-9

    • DOI

      10.1111/j.1528-1167.2011.03053.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-21591342, KAKENHI-PROJECT-23659529
  • [Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation2011

    • Author(s)
      Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko s, Hirose S
    • Journal Title

      Brain Dev

      Volume: (in press) Issue: 8 Pages: 617-9

    • DOI

      10.1016/j.braindev.2011.11.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23791201
  • [Journal Article] The Developmental Changes of Na(v)1.1 and Na(v)1.2 Expression in the Human Hippocampus and Temporal Lobe.2011

    • Author(s)
      Wang W, Takashima S, Segawa Y, Itoh M, Shi X, Hwang SK, Nabeshima K, Takeshita M, Hirose S.
    • Journal Title

      Brain Res

      Volume: 1389(5) Pages: 61-70

    • DOI

      10.1016/j.brainres.2011.02.083

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] Benign convulsions with mild gastroenteritis: is it associated with sodium channel geneSCN1A mutation?2010

    • Author(s)
      Weng WC, Hirose S, Lee WT
    • Journal Title

      J Child Neurol

      Volume: 25(12) Issue: 12 Pages: 1521-4

    • DOI

      10.1177/0883073810370898

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in FukuokaPrefecture2010

    • Author(s)
      Torisu H, Kira R, Ishizaki Y, Sanefuji M, Yamaguchi Y, Yasumoto S, Murakami Y, Shimono M, Nagamitsu S, Masuzaki M, Amamoto M, Kondo R, Uozumi T, Aibe M, Gondo K, Hanai T, Hirose S, Matsuishi T, Shirahata A, Mitsudome A, Hara T.
    • Journal Title

      Japan. Brain Dev

      Volume: 32(6) Issue: 6 Pages: 454-62

    • DOI

      10.1016/j.braindev.2009.10.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-21591326
  • [Journal Article] Positive association between benign familial infantile convulsions and LGI42010

    • Author(s)
      Ishii A, Zhang B, Kaneko S, Hirose S
    • Journal Title

      Brain Dev

      Volume: 32 Issue: 7 Pages: 538-43

    • DOI

      10.1016/j.braindev.2009.09.006

    • NAID

      10027491923

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] Benign Convulsions With Mild Gastroenteritis : Is It Associated With Sodium Channel Gene SCNIA Mutation?2010

    • Author(s)
      Hirose S, et al
    • Journal Title

      J Child Neurol

      Volume: 25(12) Pages: 1521-1524

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Clinical features of Wilson disease : Analysis of 10 cases2010

    • Author(s)
      Hirose S, et al
    • Journal Title

      Hepatology Research

      Volume: 40 Pages: 1204-1211

    • NAID

      10028172571

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] IgG subclasses and complement pathway in segmental and global membranous nephropathy2010

    • Author(s)
      Segawa Y, Hisano S, Matsushita M, Fujita T, Hirose S, Takeshita M, Iwasaki H
    • Journal Title

      Pediatr Nephrol

      Volume: 25(6) Issue: 6 Pages: 1091-9

    • DOI

      10.1007/s00467-009-1439-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies2010

    • Author(s)
      Hirose S, et al
    • Journal Title

      Journal of Human Genetics

      Volume: 55 Pages: 375-378

    • NAID

      10030735495

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Positive association between benign familial infantile convulsions and LG142010

    • Author(s)
      Hirose S, et al
    • Journal Title

      Brain & Development

      Volume: 32 Pages: 538-543

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Clinical features of Wilson disease: Analysis of 10 cases2010

    • Author(s)
      Takeyama Y, Yokoyama K, Takata K, Tanaka T, Sakurai K, Matsumoto T, Iwashita H, Ueda S, Hirano G, Hanano T, Nakane H, Morihara D, Nishizawa S, Yoshikane M, Anan A, Kakumitsu S, Kitamura Y, Sakamoto M, Irie M, Iwata K,Shakado S, Sohda T, Watanabe H, Hirose S, Hayashi H, Noritomi T, Yamashita Y, Sakisaka S.
    • Journal Title

      Hepatol Res

      Volume: 40(12) Issue: 12 Pages: 1204-11

    • DOI

      10.1111/j.1872-034x.2010.00728.x

    • NAID

      10028172571

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Interaction of golgin-84 with the conserved oligomeric Golgi (COG)complex mediates the intra-Golgi retrograde transport.2010

    • Author(s)
      Sohda M, Misumi Y, Yamamoto A, Nakamura N, Ogata S, Sakisaka S, Hirose S, Ikehara Y, Oda K
    • Journal Title

      Traffic

      Volume: 11 Issue: 12 Pages: 1552-66

    • DOI

      10.1111/j.1600-0854.2010.01123.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-22592085
  • [Journal Article] Genetic testing in the epilepsies Report of the ILAE Genetics Commission2010

    • Author(s)
      Hirose S, et al
    • Journal Title

      Epilepsia

      Volume: 51(4) Pages: 655-670

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies2010

    • Author(s)
      Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S.
    • Journal Title

      J Hum Genet

      Volume: 55(6) Issue: 6 Pages: 375-8

    • DOI

      10.1038/jhg.2010.47

    • NAID

      10030735495

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Genetic testing in the epilepsies2010

    • Author(s)
      Ottman R, Hirose S
    • Journal Title

      Report of the ILAE Genetics Commission Epilepsia

      Volume: 51(4) Issue: 4 Pages: 655-670

    • DOI

      10.1111/j.1528-1167.2009.02429.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan2010

    • Author(s)
      Hirose S, et al
    • Journal Title

      Brain & Development

      Volume: 32 Pages: 454-462

    • NAID

      10027491651

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus2009

    • Author(s)
      Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S.
    • Journal Title

      Brain Dev 31(2)

      Pages: 179-82

    • NAID

      10025578995

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome2009

    • Author(s)
      Hirose S., et al
    • Journal Title

      Brain Dev 31

      Pages: 758-62

    • NAID

      10026413050

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Physicochemical property changes of amino acid residues that accompany missense mutations in SCNIA affect epilepsy phenotype severity2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      J Med Genet 46(10)

      Pages: 671-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome2009

    • Author(s)
      Shi X, Yasumoto S, Nakagawa E, Fukasawa T, Uchiya S, Hirose S
    • Journal Title

      BrainDev

      Volume: 31 Issue: 10 Pages: 758-62

    • DOI

      10.1016/j.braindev.2009.08.009

    • NAID

      10026413050

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)2009

    • Author(s)
      Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H, Kaneko S, Ugawa Y.
    • Journal Title

      Epilepsy Res (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Lack of potassiumcurrent in W309R mutant KCNQ3 channelcausing benign familial neonatalconvulsions (BFNC)2009

    • Author(s)
      Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H,Kaneko S, Ugawa Y
    • Journal Title

      Epilepsy Res 84(1)

      Pages: 82-5

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Current Proceedings of Febrile Seizures and Related Epileptic Syndromes in SCN1A : from Bedside to Bench2009

    • Author(s)
      Chen S-J, Hirose S.
    • Journal Title

      J Med Sci 29(4)

      Pages: 167-172

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.2009

    • Author(s)
      Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S.
    • Journal Title

      Epilepsia

      Volume: 50(9) Issue: 9 Pages: 2158-62

    • DOI

      10.1111/j.1528-1167.2009.02175.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions2009

    • Author(s)
      Ishii A, Fukuma G, Uehara. A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S.
    • Journal Title

      Brain Dev 31(1)

      Pages: 27-33

    • NAID

      10025578186

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic enilensv in infancy2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Epilepsia 50(9)

      Pages: 2158-62

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures2009

    • Author(s)
      Hirose S., et al
    • Journal Title

      Neurology 73(15)

      Pages: 1214-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Brain Dev 31(2)

      Pages: 179-82

    • NAID

      10025578995

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)2009

    • Author(s)
      Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H, Kaneko S, Ugawa Y.
    • Journal Title

      EpilepsyRes 84(1)

      Pages: 82-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures2009

    • Author(s)
      Hirose S., et al
    • Journal Title

      Neurology 73(15)

      Pages: 1214-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Epilepsia 50(9)

      Pages: 2158-62

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Brain Dev 31(1)

      Pages: 27-33

    • NAID

      10025578186

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      J Med Genet 46(10)

      Pages: 671-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Current Proceedings of Febrile Seizures and Related Epileptic Syndromes in SCN1A : from Bedside to Bench2009

    • Author(s)
      Chen S-J, Hirose S.
    • Journal Title

      J Med Sci 29(4)

      Pages: 167-172

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsyphenotype severity.2009

    • Author(s)
      Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, Kaneko S.
    • Journal Title

      J Med Genet.

      Volume: 46(10) Issue: 10 Pages: 671-9

    • DOI

      10.1136/jmg.2008.060897

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome2009

    • Author(s)
      Hirose S., et al
    • Journal Title

      Brain Dev 31

      Pages: 758-62

    • NAID

      10026413050

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Brain Dev 31(2)

      Pages: 179-82

    • NAID

      10025578995

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions2009

    • Author(s)
      Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S.
    • Journal Title

      Brain Dev

      Volume: 31(1) Issue: 1 Pages: 27-33

    • DOI

      10.1016/j.braindev.2008.05.010

    • NAID

      10025578186

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] de novo KCNQ2 mutation detected innon-familial benign neonatal convulsions2009

    • Author(s)
      Ishii A, Fukuma G, Uehara A, Miyajima T, MakitaY, Hamachi A, Yasukochi M, Inoue T, Yasumoto S,Okada M, Kaneko S, Mitsudome A, Hirose S
    • Journal Title

      BrainDev 31(1)

      Pages: 27-33

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions2009

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Brain Dev 31(1)

      Pages: 27-33

    • NAID

      10025578186

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.2009

    • Author(s)
      Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S
    • Journal Title

      Brain Dev

      Volume: 31(2) Issue: 2 Pages: 179-82

    • DOI

      10.1016/j.braindev.2008.06.001

    • NAID

      10025578995

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions(BFNC)2009

    • Author(s)
      Hirose S., et al
    • Journal Title

      Epilepsy Res 84(1)

      Pages: 82-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatalconvulsions (BFNC).2009

    • Author(s)
      Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H, Kaneko S, Ugawa Y.
    • Journal Title

      Epilepsy Res

      Volume: 84(1) Issue: 1 Pages: 82-5

    • DOI

      10.1016/j.eplepsyres.2008.12.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23659529
  • [Journal Article] Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions(BFNC)2009

    • Author(s)
      Hirose S., et al
    • Journal Title

      Epilepsy Res 84(1)

      Pages: 82-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Current Proceedings of Febrile Seizures and Related Epileptic Syndromes in SCN1A: from Bedside toBench.2009

    • Author(s)
      Chen S-J, Hirose S
    • Journal Title

      J Med Sci

      Volume: 29(4) Pages: 167-72

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Physico-chemical property changes of amino acid residue accompanied with missense mutations in SCN1A affect the epilepsy phenotype severity2009

    • Author(s)
      Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, and Kaneko S.
    • Journal Title

      JMG2009 (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatalseizures2009

    • Author(s)
      Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T, Yasumoto S, Ogawa A, Kaneko S, Hirose S.
    • Journal Title

      Neurology

      Volume: 73(15) Pages: 1214-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Journal Article] Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      Epilepsia 49(9)

      Pages: 1528-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      Epilepsia 49(9)

      Pages: 1528-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype2008

    • Author(s)
      Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahata T, Saito R, Miura Y, Kishi A, Tomiyama M, Sato A, Kojima T, Fukuma G, Wakabayashi K, Hase K, Ohno H,Kijima H, Takano Y, Mitsudome A,Kaneko S, Hirose S.
    • Journal Title

      J Neurosci 28(47)

      Pages: 12465-76

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Developmental changes in KCNQ2 and KCNQ3 expression in humanbrain : possible contribution to the age-dependent etiology of benign familial neonatal convulsions2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      Brain Dev 30(5)

      Pages: 362-9

    • NAID

      10025577003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Micro chromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.2008

    • Author(s)
      Wang, J., Kurahashi, H., Ishii, A., Kojima, T., Ohfu, T., Inoue, T., Ogawa, A., Yasumoto S., Oguni, H., Kure, T., Fujii, T., Ito, M., Okuno T., Shirasaka, Y., Nakatsu, J., Hasegawa, A., Konagaya, A., Kaneko, S. & Hirose S.
    • Journal Title

      Epilepsia (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Microchromosomal deletions involvingSCN1A and adjacent genes in severe myoclonicepilepsy in infancy2008

    • Author(s)
      Wang JW, Kurahashi H, Ishii A, Kojima T, OhfuM, Inoue T, Ogawa A, Yasumoto S, Oguni H,Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y,Natsume J, Hasegawa A, Konagaya A, Kaneko S,Hirose S
    • Journal Title

      Epilepsia 49(9)

      Pages: 1528-34

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Developmental changes in KCNQ2 and KCNQ3 expression in human brain : possible contribution to the age-dependent etiology of benign familial neonatal convulsions2008

    • Author(s)
      Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S.
    • Journal Title

      Brain Dev 30(5)

      Pages: 0-0

    • NAID

      10025577003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy2008

    • Author(s)
      Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
    • Journal Title

      Epilepsia 49(9)

      Pages: 1528-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy2008

    • Author(s)
      Uehara A, Nakamura Y, Shioya T, Hirose S, Yasukochi M, Uehara K.
    • Journal Title

      J Membr Biol 222(2)

      Pages: 55-63

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy2008

    • Author(s)
      Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure 5, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
    • Journal Title

      Epilepsia 49(9)

      Pages: 1528-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Progress in genetics of severe myoclonic epilepsy in fancy2008

    • Author(s)
      Kurahashi K, Wang J, Ishii A, Fukuma G, Hamachi A, Yonetani M, Ogawa A, Ohfu M, Inoue T, Yasumoto S, Hirose S.
    • Journal Title

      Progress in Epileptic Disorders(In: Fukuyama Y, Takahashi T, editors. Biology of Seizere Susceptibility in Developing Brain. Paris: Editions John Libbey Eurotext Montrouge)

      Pages: 1-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Microchromosomal deletions involving SCN1A and adjacent genes ins evere myoclonic epilepsy in infancy2008

    • Author(s)
      Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
    • Journal Title

      Epilepsia 49(9)

      Pages: 1528-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy.2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      J Membr Biol 222(2)

      Pages: 55-63

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy2008

    • Author(s)
      Uehara A, Nakamura Y, Shioya T, Hirose S, Yasukochi M, Uehara K.
    • Journal Title

      J Membr Biol 222(2)

      Pages: 55-63

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Rats Harboring S284LChrna4 Mutation Show Attenuation of Synapticand Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype2008

    • Author(s)
      Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahara T, Saito R, Miura Y, Kishi A, TomiyamaM, Sato A, Kojima T, Fukuma G, Wakabayashi K,Hase K, Ohno H, Kijima H, Takano Y, MitsudomeA, Kaneko S, Hirose S
    • Journal Title

      J Neurosci 28(47)

      Pages: 12465-76

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Rats Harboring S284L Chrna4 Mutation Show Attenuation of Synaptic and Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype2008

    • Author(s)
      Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahara T, Saito R, Miura Y, Kishi A, Tomiyama M, Sato A, Kojima T, Fukuma G, Wakabayashi K, Hase K, Ohno H, Kijima H, Takano Y, Mitsudome A, Kaneko S, Hirose S.
    • Journal Title

      J Neurosci 28(47)

      Pages: 12465-76

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Rats Harboring S284L Chrna4 Mutation Show Attenuation of Synaptic and Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype.2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      J Neurosci 28(47)

      Pages: 12465-76

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Developmental changes in KCNQ2 and KCNQ3 expression in humanbrain : possible contribution to the age-dependent etiology of benign familial neonatal convulsions2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      Brain Dev 30(5)

      Pages: 362-9

    • NAID

      10025577003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy.2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      J Membr Biol 222(2)

      Pages: 55-63

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Rats Harboring S284L Chrna4 Mutation Show Attenuation of Synaptic and Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype.2008

    • Author(s)
      Hirose S., et al
    • Journal Title

      J Neurosci 28(47)

      Pages: 12465-76

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype2008

    • Author(s)
      Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahata T, Saito R, Miura Y, Kishi A, Tomiyama M, Sato A, Kojima T, Fukuma G, Wakabayashi K, Hase K, Ohno H, Kijima H, Takano Y, Mitsudome A, Kaneko S, Hirose S.
    • Journal Title

      J Neurosci 28(49)

      Pages: 12465-76

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] High-Grade mature B-cell lymphoma with Burkitt-like morphology : Results of a clinicopathological study of 72 Japanese patients2008

    • Author(s)
      Nomura Y, Karube K, Suzuki R, Guo Ying, Takeshita M, Hirose S, Nakamura S, Yoshida T, Kikuchi M, Ohshima K.
    • Journal Title

      Cancer Sciense 99(2)

      Pages: 246-52

    • NAID

      10024002025

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Developmental changes in KCNQ2 and KCNQ3 expression in human brain : possible contribution to the age-dependent etiology of benign familial neonatal convulsions2008

    • Author(s)
      Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S.
    • Journal Title

      Brain Dev 30(5)

      Pages: 362-9

    • NAID

      10025577003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] てんかんの責任遺伝子探索と遺伝子多型に基づいた個別化治療の開発.2007

    • Author(s)
      兼子直, 岩佐博人, 古郡規雄, 岡田元宏, 土嶺章子, 佐々木智美, 藤井学, 吉田秀一, 廣瀬伸一, 伊藤正利, 小国弘量, 大澤真木子, 前澤真理子, 小島俊男, 金井数明, 和田一丸.
    • Journal Title

      厚生労働省精神・神経疾患研究委託費(16指-3)研究報告書

      Pages: 87-93

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutation screening of AP3M2 in Japanese epilepsy patients.2007

    • Author(s)
      Hung MC, Okada M, Nakatsu F, Oguni H, Ito M, Morita K, Nagafuji H, Hirose S, Sakaki Y, Kaneko S, Ohno H, Kojima T
    • Journal Title

      Brain Dev-Jpn (in press)

    • NAID

      10024136602

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] A Type I split cord malformation is a significant pathomechanism of spina bifida aperta in neonates2007

    • Author(s)
      Ogawa A, Tomonoh Y, Hayashi H, Ohta E, R. K, Mori T, Utsunomiya H,Hirose S.
    • Journal Title

      Med. Bull. Fukuoka Univ. 34(4)

      Pages: 261-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Type I split cord malfbmlation is a significant pathomechanism of spina bifida aerta in neonates2007

    • Author(s)
      Hirose S, et. al.
    • Journal Title

      Med.Bull.Fukuoka Univ 34(4)

      Pages: 261-266

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Mutation screening of AP3M2 in Japanese epilepsy patients2007

    • Author(s)
      Hirose S, et. al.
    • Journal Title

      Brain Dev 29(8)

      Pages: 462-467

    • NAID

      10024136602

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Midazolam for the treatment of neonatal electroencephalography-confirmed seizures2007

    • Author(s)
      Hirose S, et. al.
    • Journal Title

      Med.Bull.Fukuoka Univ 34(4)

      Pages: 267-271

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Focal epilepsy resulting from a de novo SCN1A mutation2007

    • Author(s)
      Okumura A, Kurahashi H, Hirose S, Okawa N, Watanabe K.
    • Journal Title

      Neuropediatrics 38(5)

      Pages: 253-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] ヒトてんかんと遺伝子導入モデル動物を用いたてんかんの病態解明.2007

    • Author(s)
      廣瀬伸一, 岡田元宏, 朱剛, 上野伸哉, 吉田淑子, 福間五龍, 斎藤亮, 高野行夫, 兼子直, 満留昭久.
    • Journal Title

      てんかん治療研究振興財団研究年報 18

      Pages: 49-54

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutation screening of AP3M2 in Japanese epilepsy patients.2007

    • Author(s)
      Huang, M., Okada, M., Nakatsu, F., Oguni, H., Ito, m M., Morita, K., Nakafuji, H., Hirose, S., Sakaki, Y., Kaneko, S., Ohno, H. & Kojima, T.
    • Journal Title

      Brain & development, 29

      Pages: 462-467

    • NAID

      10024136602

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Chrna 4に異常を持つ遺伝子改変モデル動物の神経科学的解析.2007

    • Author(s)
      廣瀬伸一, 岡田元宏, 朱剛, 上野伸哉, 吉田淑子, 福間五龍, 斎藤亮, 高野行夫, 兼子直, 満留昭久.
    • Journal Title

      厚生労働省精神・神経疾患研究委託費(16指-3)研究報告書

      Pages: 81-86

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutation screening of AP3M2 in Japanese epilepsy patients2007

    • Author(s)
      Huang MC, Okada M, Nakatsu F, Oguni H, Ito M, Morita K, Nagafuji H, Hirose S, Sakaki Y, Kaneko S, Ohno H, Kojima T.
    • Journal Title

      Brain Dev 29(8)

      Pages: 462-7

    • NAID

      10024136602

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Midazolam for the treatment of neonatal electroencephalography-confirmed seizures2007

    • Author(s)
      Hirose S, et. al.
    • Journal Title

      Med.Bull.Fukuoka Univ 34(4)

      Pages: 267-271

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Midazolam for the treatment of neonatal electroencephalography-confirmed seizures2007

    • Author(s)
      Ogawa A., Shirotani G, Hashimoto J, Hayashi H, Ninomiya S, Ohta, E., Kinoshita R. M, T., Hirose S.
    • Journal Title

      Med. Bull. Fukuoka Univ. 34(4)

      Pages: 267-71

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Sympathetic skin response in patients with severe motor and intellectual disabilities2007

    • Author(s)
      Ogawa A, Hamamoto K, Hirose S, Fujikawa M, Mitsudome A.
    • Journal Title

      No To Hattatsu 39(5)

      Pages: 347-50

    • NAID

      10019813749

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Mutation screening of AP3M2 in Japanese epilepsy patients2007

    • Author(s)
      Hirose S, et. al.
    • Journal Title

      Brain Dev 29(8)

      Pages: 462-467

    • NAID

      10024136602

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Type I split cord malfomlation is a significant pathomechanism of spinabifida aerta in neonates2007

    • Author(s)
      Hirose S, et. al.
    • Journal Title

      Med.Bull.Fukuoka Univ 34(4)

      Pages: 261-266

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Journal Article] Involvement of Ca^<2+>-induced Ca^<2-> releasing system in interleukin-1 β-associated adenosine release.2006

    • Author(s)
      Zhu G, Okada M, Yoshida S, Mori F, Hirose S, Wakabayashi K, Kaneko S
    • Journal Title

      Eur J Pharmacol 532

      Pages: 246-252

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Phenotypes and genotypes in epilepsy with febrile seizures plus2006

    • Author(s)
      Ito M, Yamakawa K, Sugawara T, Hirose S,Fukuma G, Kaneko S.
    • Journal Title

      Epilepsy Res 70 Suppl 1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Neuropathyology of amethylmalonic Acidemia in a Child2006

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Pediatr Neurol 34

      Pages: 156-159

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Involment of Ca2 + -induced Ca2 + releasing system in interleukin-1β-associated adenosine release2006

    • Author(s)
      Hirose S., et al.
    • Journal Title

      European Journal of Pharmacology 532

      Pages: 246-252

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] A new paradigm of channelopathy in epilepsy syndrome : Intracellular trafficking abnormality of channel molecules.2006

    • Author(s)
      Hirose S
    • Journal Title

      Epilepsy Res 70S

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Involvement of Ca^<(2+)>-induced Ca^<2+> releasing system in interleukin-1β-associated adenosine release2006

    • Author(s)
      Zhu G, Okada M, Yoshida S, Mori F, Hirose S, Wakabayashi K, Kaneko S.
    • Journal Title

      Eur J Pharmacol 532(3)

      Pages: 246-52

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Neuropathology of methylmalonic acidemia in a child2006

    • Author(s)
      Kanaumi T, Takashima S,Hirose S, Kodama T, Iwasaki H.
    • Journal Title

      Pediatr Neurol 34(2)

      Pages: 156-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] A new paradigm of channelopathy in epilepsy syndromes : Intracellular trafficking abnormality of channel molecules2006

    • Author(s)
      Hirose S.
    • Journal Title

      Epilepsy Research 70s

      Pages: 206-217

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.2006

    • Author(s)
      Kanaumi T, Hirose S, et al.
    • Journal Title

      Pediatr Neurol 34(3)

      Pages: 235-238

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Phenotypes and genotypes in epilepsy with febrile seizures plus.2006

    • Author(s)
      Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S
    • Journal Title

      Epilepsy Res 28(3)

      Pages: 308-311

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype Running title : An infant of MELAS phenotype2006

    • Author(s)
      Hirose S., et al.
    • Journal Title

      Pediatr Neurol 34(3)

      Pages: 235-238

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] A new paradigm of channelopathy in epilepsy syndromes : intracellular trafficking abnormality of channel molecules2006

    • Author(s)
      Hirose S.
    • Journal Title

      Epilepsy Res 70 Suppl 1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Ictal midline epileptiform discharges in benign familial neonatal convulsions2006

    • Author(s)
      Ogawa A, Hirose S, Yasumoto S, Ohfu M, Mitsudome A.
    • Journal Title

      Med. Bull. Fukuoka Univ. 33(4)

      Pages: 305-7

    • NAID

      110004830503

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Developmental changes in the expression of GABA_A receptor alpha 1 and gamma 2 subunts in human temporal lobe, hippocampus and basal ganglia; An implication for consideration on age-related epilepsy.2006

    • Author(s)
      Kanaumi T, Takashima S, Iwasaki H, Mitsudime S, Hirose S
    • Journal Title

      Epileps Res 71

      Pages: 47-53

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Involvement of Ca^<2+>-induced Ca^<2+> releasing system in interleukin-1 β-associated adenosine release.2006

    • Author(s)
      Zhu G, Okada M, Yoshida S, Mori F, Hirose S, Wakabayashi K, Kaneko S.
    • Journal Title

      Eur J Pharmacol 532

      Pages: 246-252

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Neuropathology of methylmalonic acidemia in a child.2006

    • Author(s)
      Kanaumi T, Takashima S, Hirose S, et al.
    • Journal Title

      Pediatr Neurol 34(2)

      Pages: 156-159

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Involvement of Ca^<2+>-induced Ca^<2+>releasing system in interlerkin-1beta-associatedadenosine release2006

    • Author(s)
      Zhu G, Okada M, Yoshida S, Mori F, Hirose S, Wakabayashi K, Kaneko S.
    • Journal Title

      Eur J Pharmacol 532(3)

      Pages: 246-52

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Developmental changes in the expression of GABA_A receptor alpha 1 and gamma 2 subunits in human temporal lobe, hippocampus and basal ganglia : an implication for consideration on age-related epilepsy2006

    • Author(s)
      Kanaumi T, Takashima S, Iwasaki H, Mitsudome A, Hirose S.
    • Journal Title

      Epilepsy Res 71(1) :

      Pages: 47-53

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Late-onset ornithine transcarbamylase deficiency in male patients : prognostic factors and characteristics of plasma amino acid profile2006

    • Author(s)
      Harada E, Nishiyori A, Tokunaga Y, Watanabe Y, Kuriya N, Kumashiro R, Kuno T, Kuromaru R, Hirose S, Ichikawa K, Yoshino M.
    • Journal Title

      Pediatr Int 48(2)

      Pages: 105-11

    • NAID

      10018195131

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype2006

    • Author(s)
      Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A.
    • Journal Title

      Pediatr Neurol 34(3)

      Pages: 235-8

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] A new paradigm of channelopathy inepilepsy syndromes : intracellular traffickingabnormality of channel molecules2006

    • Author(s)
      Hirose S
    • Journal Title

      Epilepsy Res 70Suppl 1

    • Data Source
      KAKENHI-PROJECT-18209035
  • [Journal Article] Genetics of idiopathic epilepsies.2005

    • Author(s)
      Hirose S, Mitsudome A, Okada M, Kaneko S
    • Journal Title

      Epilepsia 46(1)

      Pages: 38-43

    • NAID

      10016481115

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Genetics of idiopathic Epilepsies2005

    • Author(s)
      S Hirose et al.
    • Journal Title

      Epilepsia 46・1

      Pages: 38-43

    • NAID

      10016481115

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype2005

    • Author(s)
      T Kanaumi, S Hirose, et al.
    • Journal Title

      PEDIATRIC NEUROLOGY 34(3)

      Pages: 235-238

    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] Mutations of KCNQ2 and KCNQ3 identified in benign neonatal convulsions cause channel dysfunction despite proper expression on the cell membrane.2005

    • Author(s)
      Ishii A, Fukuma G, Yasukochi M, Uehara A, Miyajima T, Hamachi A, Yonetani M, Kaneko S, Mitsudome A, Hirose S
    • Journal Title

      Neurology Asia 9(Suppl 1)

      Pages: 146-146

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Screening method for organic aciduria by spectrofluorometric measurement of total dicarboxyloc acids in human urine based on intramolecular excimer-forming fluroscence derivatization.2005

    • Author(s)
      Yoshida H, Araki J, Sonoda J, Nohta H, Ishida J, Hirose S, Yamaguchi M
    • Journal Title

      Anal Chimica Acta 534

      Pages: 177-183

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Genetics of idiopathic Epilepsies2005

    • Author(s)
      S Hirose, et al.
    • Journal Title

      Epilepsia 46(1)

      Pages: 38-43

    • NAID

      10016481115

    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] Genetics of Idiopathic Epilepsies2005

    • Author(s)
      Hirose S, Mitsudome A, et al.
    • Journal Title

      Epilepsia 46/1

      Pages: 38-43

    • NAID

      10016481115

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] てんかんの分子遺伝学研究のUp to date2005

    • Author(s)
      兼子 直, 金井数明, 福間五龍, 岡田元宏, 桑原 聡, 廣瀬伸一
    • Journal Title

      ゲノム医学 5(3)

      Pages: 241-245

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Possible pathogenesis of severe myoclonic epilepsy in infancy : A novel nonsense mutation of GABRG2 leading to aggregation of GABA receptors in neurons.2005

    • Author(s)
      Kanaumi T, Fukuma G, Ueno S, Ishii A, Haga Y, Hamachi A, Yonetani M, Itoh M, Takashima S, Kaneko S, Mitsudome A, Hirose S
    • Journal Title

      Neurology Asia 9(Suppl 1)

      Pages: 151-151

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Genetics of idiopathic Epilepsies. 20052005

    • Author(s)
      S Hirose., et al.
    • Journal Title

      Epilepsia 46(1)

      Pages: 38-43

    • Data Source
      KAKENHI-PROJECT-15390329
  • [Journal Article] Localisation of missense mutations in SCN1A affects epilepsy phenotype severity.2005

    • Author(s)
      Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Kuwabara S, Wada K, Iwasa H, Yasumoto S, Ito M, Hattori T, Mitsudome A, Kaneko S
    • Journal Title

      Neurology Asia 9(Suppl 1)

      Pages: 144-144

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype running title : An infant of MELAS phenotype.2005

    • Author(s)
      Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A
    • Journal Title

      Pediatr Neurol (in press)

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Carnitine palmitoyltransferase II deficiency due to a novel gene variant a patient with phabdomyolysis and ARF.2005

    • Author(s)
      Kaneko H, Uesugi N, Moriguchi A, Hirose S, Takayanagi M, Yamaguchi S, Shigematsu Y, Yasuno T, Sasatomi Y, Sait T
    • Journal Title

      Am J Kidney Dis 45

      Pages: 596-602

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] てんかん -責任遺伝子解明の進展とその後の課題-2005

    • Author(s)
      兼子 直, 金井数明, 岡田元宏, 桑原聡, 廣瀬伸一
    • Journal Title

      実験医学 23(5)

      Pages: 776-781

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Genetics of idiopathic epilepsies.2005

    • Author(s)
      Hirose S, Mitsudome A, Okada M, Kaneko S, on behalf of The Epilepsy Study Group, Japan
    • Journal Title

      Epilepsia 46(Suppl 1)

      Pages: 38-43

    • NAID

      10016481115

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Biphasic action of topiramate on monoamine exocytosis associated with both soluble N-ethylmaleimide-sensitive factor attachment protein receptors and Ca^<2+>-induced Ca^<2+>-releasing systems.2005

    • Author(s)
      Okada M, Yoshida S, Zhu G, Hirose S, Kaneko S
    • Journal Title

      Neuroscience 134

      Pages: 233-246

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Seven myoclonic epilepsy in infants -clinical analysis and relation to SCN1A, mutations.2005

    • Author(s)
      Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, Hirose S, Mitsudome A, Kaneko S
    • Journal Title

      Adv Neurol 95

      Pages: 103-117

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Biphasic action of topiramate on monoamine exocytosis associated with both soluble N-ethy lmaleimide-sensitive factor attachment protein receptors and Ca^2+-induced Ca^2+-releasing systems2005

    • Author(s)
      S Hirose, et. al.
    • Journal Title

      Neuroscience 134

      Pages: 233-246

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Journal Article] A novel de novo KCNQ2 mutation in a sporadic case of benign neomatal convulsions.2005

    • Author(s)
      Ishii Ai, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Okada M, Kaneko S, Akihisa M, Hirose S
    • Journal Title

      Epilepsia 46(Suppl 2)

      Pages: 3-4

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Carnitine Palmitoyltransferase II Deficiency Due to a Novel Gene Variant in a Patient With Phabdomyolvsis and ARF2005

    • Author(s)
      H Kaneko, S Hirose, et. al.
    • Journal Title

      Am J of Kidney Dis 45

      Pages: 596-602

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Journal Article] Mutation in the NHLRCI gene are the common cause for Lafora disease in he Japanese population2005

    • Author(s)
      S Hirose, et. al.
    • Journal Title

      J Hum Genet 50

      Pages: 347-352

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Journal Article] ヒトてんかんと同じ遺伝子異常をもつ組換え動物の作出2005

    • Author(s)
      岡田元宏, 朱 剛, 上野伸哉, 吉田淑子, 福間五龍, 廣瀬伸一, 兼子 直
    • Journal Title

      精神薬療研究年報 37

      Pages: 160-164

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutation in the NHLRC1 gene are the common causefor Lafora disease in the Japanese population.2005

    • Author(s)
      Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S
    • Journal Title

      J Hum Genet 50

      Pages: 347-352

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Neuropathological findings in a child with methymalonic academia.2005

    • Author(s)
      Kanaumi T, Takahashi S, Hirose S, Kodama T, Iwasaki H, Mitsudome A
    • Journal Title

      Pediatr Neurol (in press)

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Biphasic actions of topiramete on monamine exocytosis associated with both soluble N-ethylmateimide-sensitive factor attachment protein receptors and Ca^<2+>-induced Ca^<2+>-releasing systems2005

    • Author(s)
      Okada M, Yoshida S, Zhu G, Hirose S, Kaneko S.
    • Journal Title

      Neuroscience 134(1)

      Pages: 233-46

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.2004

    • Author(s)
      Kanai K, Hirose S, et al.
    • Journal Title

      Neurology 63

      Pages: 329-334

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] イオンチャネルとてんかん2004

    • Author(s)
      廣瀬伸一
    • Journal Title

      神経進歩 48/6

      Pages: 899-905

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] 特発性てんかんの分子生物学2004

    • Author(s)
      廣瀬伸一
    • Journal Title

      小児神経学の進歩 33

      Pages: 60-67

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Seizure phenotypes of a family with missense mutations in SCN2A.2004

    • Author(s)
      Ito M, Hirose S, et al.
    • Journal Title

      Pediatr Neurol 31/2

      Pages: 150-152

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Child neurology in asia2004

    • Author(s)
      廣瀬伸一, 他
    • Journal Title

      脳と発達 36/2

      Pages: 141-142

    • NAID

      10012951581

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] GABA受容体,Kチャネル異常を示すてんかん2004

    • Author(s)
      廣瀬伸一, 他
    • Journal Title

      てんかん研究 22/3

      Pages: 160-170

    • NAID

      10016244179

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] てんかんの病態へ分子生物学で迫る2004

    • Author(s)
      廣瀬伸一
    • Journal Title

      臨床神経学 44/11

      Pages: 975-978

    • NAID

      10014115075

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Effect of localization of missense mutations2004

    • Author(s)
      K Kanai, S Hirose et al.
    • Journal Title

      Neurology 63

      Pages: 329-334

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] The genetics of febrile seizures and related epilepsy syndromes2003

    • Author(s)
      Hirose, S, et al.
    • Journal Title

      Brain&Development 25/5

      Pages: 304-312

    • NAID

      10015632240

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] The genetics of febrile seizured and related epilepsy syndromes2003

    • Author(s)
      S Hirose et al.
    • Journal Title

      Brain Dev 25

      Pages: 304-312

    • NAID

      10015632240

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15300146
  • [Journal Article] J Hum Genet

    • Author(s)
      S Hirose, et. al.
    • Journal Title

      Mutation in the NHLRC1 gene are the common cause for Lafora disease in the Japanesepopulation

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Journal Article] Am J of Kidney Dis

    • Author(s)
      S Kaneko, S Hirose, et. al.
    • Journal Title

      Camitine Palmitoyltransferase II Deficiency Due to a Novel Gene Variant in a Patient With Phabdomyolysis and ARE

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Journal Article] Neuroscience

    • Author(s)
      S Hirose, et. al.
    • Journal Title

      Biphasic action of topiramate on monoamine exocytosis associated with both soluble N-ethylmaleimide-sensitive factor attachment protein receptors and

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Patent] ナトリウムチャネル結合剤及び医薬組成物2020

    • Inventor(s)
      廣瀬伸一、田中泰圭、柴田磨己
    • Industrial Property Rights Holder
      廣瀬伸一、田中泰圭、柴田磨己
    • Industrial Property Rights Type
      特許
    • Filing Date
      2020
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Patent] てんかんモデル非ヒト哺乳動物2009

    • Inventor(s)
      廣瀬伸一
    • Industrial Property Rights Holder
      (独)科学技術振興機構
    • Filing Date
      2009-02-10
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Patent] てんかんモデル非ヒトモデル哺乳動物2009

    • Inventor(s)
      兼子直, 廣瀬伸一
    • Industrial Property Rights Holder
      兼子直, 廣瀬伸一
    • Industrial Property Number
      2008-031002
    • Filing Date
      2009-02-10
    • Overseas
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Patent] 注意欠陥/多動性障害モデル非ヒト哺乳動物2009

    • Inventor(s)
      廣瀬伸 一 、高崎浩太郎
    • Industrial Property Rights Holder
      福岡大学
    • Industrial Property Number
      2009-188152
    • Filing Date
      2009-08-14
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Patent] 注意欠陥/多動性障害モデル非ヒト哺乳動物2009

    • Inventor(s)
      廣瀬伸一, 高崎浩太郎
    • Industrial Property Rights Holder
      福岡大学
    • Industrial Property Number
      2009-188152
    • Filing Date
      2009-08-14
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Patent] てんかんモデル非ヒト哺乳動物2009

    • Inventor(s)
      兼子直, 廣瀬伸一
    • Industrial Property Rights Holder
      兼子直, 廣瀬伸一
    • Filing Date
      2009-02-10
    • Overseas
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Patent] てんかんモデル非ヒト哺乳動物2008

    • Inventor(s)
      廣瀬伸一, 兼子直
    • Industrial Property Rights Holder
      廣瀬伸一, 兼子直
    • Industrial Property Number
      2008-031002
    • Filing Date
      2008-02-12
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Patent] 変異導入遺伝子およびそれを導入したノックイン非ヒト動物2008

    • Inventor(s)
      廣瀬伸一, 弟子丸正伸, 荒木喜美
    • Industrial Property Rights Holder
      福岡大学熊本大学
    • Industrial Property Number
      2008-273446
    • Filing Date
      2008-10-23
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Patent] 変異導入遺伝子およびそれを導入したノックイン非ヒト動物2008

    • Inventor(s)
      廣瀬伸一, 弟子丸正伸, 荒木喜美
    • Industrial Property Rights Holder
      廣瀬伸一
    • Industrial Property Number
      2008-273446
    • Filing Date
      2008-10-23
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Patent] 変異導入遺伝子およびそれを導入したノックイン非ヒト動物2008

    • Inventor(s)
      廣瀬伸一
    • Industrial Property Rights Holder
      (独)科学技術振興機構
    • Industrial Property Number
      2008-273446
    • Filing Date
      2008-10-23
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Patent] てんかんモデル非ヒト哺乳動物2008

    • Inventor(s)
      廣瀬伸一
    • Industrial Property Rights Holder
      (独)科学技術振興機構
    • Industrial Property Number
      2008-031002
    • Filing Date
      2008-02-12
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Patent] けいれん性疾患に関連する遺伝子変異とけいれん性疾患診断方法2006

    • Inventor(s)
      小島俊男, 廣瀬伸一, 岡田元宏, 兼子直
    • Industrial Property Rights Holder
      小島俊男, 廣瀬伸一, 岡田元宏, 兼子直
    • Industrial Property Number
      2005-155133
    • Acquisition Date
      2006-12-07
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Patent] てんかんモデル動物(CHRNA4:S284L)2005

    • Inventor(s)
      廣瀬伸一, 兼子直, 岡田元宏, 斉藤亮
    • Industrial Property Rights Holder
      廣瀬伸一, 兼子直, 岡田元宏, 斉藤亮
    • Industrial Property Number
      2004-062907
    • Acquisition Date
      2005-09-15
    • Overseas
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Patent] てんかんモデル動物(CHRNA4:S284L)2004

    • Inventor(s)
      廣瀬伸一, 兼子 直, 岡田元宏, 斉藤 亮
    • Industrial Property Rights Holder
      廣瀬伸一, 兼子 直, 岡田元宏, 斉藤 亮
    • Industrial Property Number
      2004-062907
    • Filing Date
      2004-03-05
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Research Experience sharing in Childhood Neurologic channelopathy disorders2023

    • Author(s)
      Hirose Shinichi
    • Organizer
      TCNS Mentoring lecture Conference
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] 神経変性疾患の病態解明に資するiPSアストロサイトによる最小神経回路の構築2022

    • Author(s)
      Kouya Uchino, Yasuyoshi Tanaka, Sayaka Kawaguchi, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Shinichi Hirose & Katsunori Iwasaki
    • Organizer
      第96 回日本薬理学会年会 (ポスター)
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Neurologic disorder in childhood channelopathy:from basicto clinic2022

    • Author(s)
      Hirose S
    • Organizer
      Ion channels: Structure, function, and disease- associated channelopathies
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Modulation of excitatory synaptic release in the single neuron by human-induced pluripotent stem cell-derived astrocytes2022

    • Author(s)
      Kouya Uchino, Yasuyoshi Tanaka, Sayaka Kawaguchi,  Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Shinichi Hirose, Katsunori Iwasaki
    • Organizer
      NEURO2022 (ポスター)
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] The establishment of a novel autaptic culture system equipped with human-induced pluripotent stem cell-derived astrocytes2022

    • Author(s)
      Kouya Uchino, Yasuyoshi Tanaka, Sayaka Kawaguchi, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Shinichi Hirose, Katsunori Iwasaki
    • Organizer
      Neuroscience meeting (ポスター)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Drug discovery based on the etiologies of epilepsy using induced pluripotent stem cells2021

    • Author(s)
      Hirose Shinichi
    • Organizer
      5th Azalea Festival symposium in Pediatric Neurology
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Application of induced pluripotent stem cells in epilepsy2021

    • Author(s)
      Hirose Shinichi
    • Organizer
      5th Azalea Festival symposium in Pediatric Neurology
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Studies on the pathomechanisms of developmental and epileptic encephalopathy using induced pluripotent stem cells.2020

    • Author(s)
      Shnichi Hirose
    • Organizer
      21st Annual Meeting of the Infantile Seizure Society International Symposium on the Pathophysiology of Developmental and Epileptic Encephalopathy
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Development of novel drugs based on the pathomechanisms of developmental epileptic encephalopathy with disease specific induced pluripotent cells.2020

    • Author(s)
      Shnichi Hirose
    • Organizer
      2020Educational Seminar of Genetic & Metabolic Diseases for Young Pediatricians/ Investigators (SGMDYPI)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03651
  • [Presentation] Disease Modeling of Refractory Epilepsy using iPSCs2018

    • Author(s)
      Hirose S,
    • Organizer
      The 40th Annual Meeting of Japanese Society of Biological Psychiatry The 61st Annual Meeting of the Japanese Society for Neurochmistry
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Challenges and Opportunities in Pediatric Neurological Disease in Low Income Countries like Nepal2018

    • Author(s)
      Hirose S
    • Organizer
      XIXth Nepalese Congress of Paediatrics,NEPCON 2018 & 37th Anniversary NEPAS
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Disease Modeling of Refractory Epilepsy using iPSCs2018

    • Author(s)
      Hirose S
    • Organizer
      The 40th Annual Meeting of Japanese Society of Biological Psychiatry The 61st Annual Meeting of the Japanese Society for Neurochmistry
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Application of Genetics to Epilepsy after Gene-Hunting2018

    • Author(s)
      Hirose S,
    • Organizer
      Anzcns 7th Annual Scientific Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Genetic background of developmental and epileptic encephalopathies2018

    • Author(s)
      Hirose S
    • Organizer
      KEC2018 23rd
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Application of Genetics to Epilepsy after Gene-Hunting2018

    • Author(s)
      Hirose S
    • Organizer
      Anzcns 7th Annual Scientific Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Genetic background of developmental and epileptic encephalopathies2018

    • Author(s)
      Hirose S,
    • Organizer
      KEC2018 23rd
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Challenges and Opportunities in Pediatric Neurological Disease in Low Income Countries like Nepal2018

    • Author(s)
      Hirose S,
    • Organizer
      XIXth Nepalese Congress of Paediatrics,NEPCON 2018 & 37th Anniversary NEPAS
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Precision medicine through stem cells2018

    • Author(s)
      Hirose S,
    • Organizer
      12th Asian and Oceanian Epilepsy Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Pathogenesis and genetic substrate2018

    • Author(s)
      Hirose S,
    • Organizer
      19th International symposium on severe infantile epilepsies: old and new treatments.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Pathogenesis and genetic substrate2018

    • Author(s)
      Hirose S
    • Organizer
      19th International symposium on severe infantile epilepsies: old and new treatments.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Precision medicine through stem cells2018

    • Author(s)
      Hirose S,
    • Organizer
      12th Asian and Oceanian Epilepsy Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Genes in Focal Epilepsy2018

    • Author(s)
      Hirose S
    • Organizer
      ANZCNS 7th Annual Scientific Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Genes in Focal Epilepsy2018

    • Author(s)
      Hirose S,
    • Organizer
      ANZCNS 7th Annual Scientific Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Status epilepticus in genetic epilepsies.2017

    • Author(s)
      Hirose S, Ishii A.
    • Organizer
      CNSP-PLAE Symposium on Status Epilepticus & 9th National Epilepsy Congress.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Application of induced pluripotent stem (iPS) cells in intractable childhood disorders.2017

    • Author(s)
      Hirose S
    • Organizer
      10th Annual World Congress on Pediatrics, Pediatric Gastroenterology and Nutrition
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Effects of steroid pulse therapy in autoimmune childhood epilepsy with anti-glutamate receptor antibodies.2017

    • Author(s)
      Yamaguchi H, Watanabe E, Ihara Y, Tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S.
    • Organizer
      CNSP-PLAE Symposium on Status Epilepticus & 9th National Epilepsy Congress.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Genetics of epileptic encephalopathy.2017

    • Author(s)
      Hirose S.
    • Organizer
      4th National Conference of Society for Indian Academy of Medical Genetics(SIAMG)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] The potential of stem cells in precision medicine.2017

    • Author(s)
      Hirose S.
    • Organizer
      32nd International Epilepsy Congress.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Status epilepticus in genetic epilepsies.2017

    • Author(s)
      Hirose S, Ishii A.
    • Organizer
      CNSP-PLAE Symposium on Status Epilepticus & 9th National Epilepsy Congress.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Epilepsy Genetics beyond “Mutation Hunting”Bridges from Laboratory to Patient Care-From the studies for epilepsy at Fukuoka University-2017

    • Author(s)
      Hirose S.
    • Organizer
      2017 Educational Seminar of Genetic & Metabolic Diseases for Young Pediatricians/Investigators(SGMDYPI)
    • Place of Presentation
      東京
    • Year and Date
      2017-01-21
    • Invited
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Effects of steroid pulse therapy in refractory epilepsy with anti-glutamate receptor antibodies2017

    • Author(s)
      Watanabe E, Ihara Y, tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Genetics of epileptic encephalopathy.2017

    • Author(s)
      Hirose S
    • Organizer
      4th National Conference of Society for Indian Academy of Medical Genetics(SIAMG)
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.2017

    • Author(s)
      Ishii A, Hirose S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] ACTH induced nonconvulsive status epilepticus in an infant with West Syndrome.2017

    • Author(s)
      Fujita T, Ideguchi H, Watanabe E, Tomonoh Y, Ihara Y, Inoue T, Hirose S, Yasumoto S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.2017

    • Author(s)
      Ishii A, Hirose S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Effects of steroid pulse therapy in refractory epilepsy with anti-glutamate receptor antibodies2017

    • Author(s)
      Watanabe E, Ihara Y, tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Effects of steroid pulse therapy in autoimmune childhood epilepsy with anti-glutamate receptor antibodies.2017

    • Author(s)
      Yamaguchi H, Watanabe E, Ihara Y, Tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S
    • Organizer
      CNSP-PLAE Symposium on Status Epilepticus & 9th National Epilepsy Congress.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Efficacy of Levetiracetam monotherapy in epilepsy.2017

    • Author(s)
      Ideguchi H, Ihara Y, Fujita T, Inoue T, Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Application of induced pluripotent stem (iPS) cells in intractable childhood disorders2017

    • Author(s)
      Hirose S
    • Organizer
      10th Annual World Congress on Pediatrics, Pediatric Gastroenterology and Nutrition
    • Place of Presentation
      アメリカ
    • Year and Date
      2017-03-23
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] The potential of stem cells in precision medicine2017

    • Author(s)
      Hirose S.
    • Organizer
      32nd International Epilepsy Congress.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Voltage-Gated sodium Ion Channels in Epileptic Encephalopathy.2017

    • Author(s)
      Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Efficacy of Levetiracetam monotherapy in epilepsy.2017

    • Author(s)
      Ideguchi H, Ihara Y, Fujita T, Inoue T, Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Voltage-Gated sodium Ion Channels in Epileptic Encephalopathy.2017

    • Author(s)
      Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] ACTH induced nonconvulsive status epilepticus in an infant with West Syndrome.2017

    • Author(s)
      Fujita T, Ideguchi H, Watanabe E, Tomonoh Y, Ihara Y, Inoue T, Hirose S, Yasumoto S
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] The effectiveness of steroid pulse therapy and prognosis in frontal lobe epilepsy with anti-glutamate receptor antibodies:a case report.2017

    • Author(s)
      Ihara Y, Tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] The effectiveness of steroid pulse therapy and prognosis in frontal lobe epilepsy with anti-glutamate receptor antibodies:a case report.2017

    • Author(s)
      Ihara Y, Tomonoh Y, Fujita T, Ideguchi H, Inoue T, Takahashi Y, Yasumoto S, Hirose S.
    • Organizer
      14th Asian and Oceanian Congress of Child Neurology.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Application of induced pluripotent stem (iPS) cells in intractable childhood disorders.2017

    • Author(s)
      Hirose S
    • Organizer
      10th Annual World Congress on Pediatrics, Pediatric Gastroenterology and Nutrition
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Application of induced pluripotent stem (iPS) cells in intractable childhood disorders2017

    • Author(s)
      Hirose S
    • Organizer
      10th Annual World Congress on Pediatrics, Pediatric Gastroenterology and Nutrition
    • Place of Presentation
      アメリカ
    • Year and Date
      2017-03-23
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Genetic background of encephalopathy2016

    • Author(s)
      Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society, International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders(ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] The effect of steroid pulse therapy on a case of Dravet,2016

    • Author(s)
      Fujita T, Ideguchi H, Watanabe E, Tomonoh Y, Ihara Y, Inoue T, Takahashi Y, Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] A case of Dravet syndrome affected an acute encephalopathy.2016

    • Author(s)
      Sokoda T, Nishizawa Y, Matsui J, Nishikura N, Takano T, Takeuchi Y, Ishii A, Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] The effect of steroid pulse therapy on a case of Dravet,2016

    • Author(s)
      Fujita T, Ideguchi H, Watanabe E, Tomonoh Y, Ihara Y, Inoue T, Takahashi Y, Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] How to interpret the results of a genetic test for epilepsy2016

    • Author(s)
      Hirose S
    • Organizer
      11th Asian & Oceanian epilepsy congress,
    • Place of Presentation
      香港
    • Year and Date
      2016-05-13
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Predictions of regression of intellectual disability and measuring efficacy of medication in 286 Japanese cohort of Dravet syndrome with SCN1A missense and truncation mutations2016

    • Author(s)
      Ishii A, Watkins J C, Chen D, Hirose S, Hammer M F, the Japanese Febrile Seizures and Epilepsy Working Group.
    • Organizer
      11th Asian & Oceanian epilepsy congress,
    • Place of Presentation
      香港
    • Year and Date
      2016-05-13
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Predictions of regression of intellectual disability and measuring efficacy of medication in 286 Japanese cohort of Dravet syndrome with SCN1A missense and truncation mutations2016

    • Author(s)
      Ishii A, Watkins J C, Chen D, Hirose S, Hammer M F, the Japanese Febrile Seizures and Epilepsy Working Group.
    • Organizer
      11th Asian & Oceanian epilepsy congress
    • Place of Presentation
      香港
    • Year and Date
      2016-05-13
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Characteristics of SCN1A Mutation locations in a Cohort of 285 Japanese Dravet Syndrome Patients,2016

    • Author(s)
      Ishii A, Watkins J, Chen D, Hirose S, Hammer M
    • Organizer
      AES Annual Meeting
    • Place of Presentation
      東京
    • Year and Date
      2016-12-02
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] How to interpret the results of a genetic test for epilepsy2016

    • Author(s)
      Hirose S
    • Organizer
      11th Asian & Oceanian epilepsy congress
    • Place of Presentation
      香港
    • Year and Date
      2016-05-13
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Genetic prdisposition to acute encephalopathy with status epilepticus.2016

    • Author(s)
      Saitoh M, Hoshino A, Ishii A, Ihara Y, Hirose S, Mizuguchi M
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Genetic background of encephalopathy2016

    • Author(s)
      Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society, International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders(ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Invited
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Genetic prdisposition to acute encephalopathy with status epilepticus.2016

    • Author(s)
      Saitoh M, Hoshino A, Ishii A, Ihara Y, Hirose S, Mizuguchi M
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Characteristics of SCN1A Mutation locations in a Cohort of 285 Japanese Dravet Syndrome Patients2016

    • Author(s)
      Ishii A, Watkins J, Chen D, Hirose S, Hammer M
    • Organizer
      AES Annual Meeting
    • Place of Presentation
      アメリカ
    • Year and Date
      2016-12-02
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] A case of Dravet syndrome affected an acute encephalopathy.2016

    • Author(s)
      Sokoda T, Nishizawa Y, Matsui J, Nishikura N, Takano T, Takeuchi Y, Ishii A, Hirose S
    • Organizer
      The 18th annual meeting of infantile seizure society International Symposium on Acute Encephalopathy in Infancy and Its Related Disorders (ISAE2016)
    • Place of Presentation
      東京
    • Year and Date
      2016-07-01
    • Data Source
      KAKENHI-PROJECT-16K15532
  • [Presentation] Identification of a De Novo KCNT1 Mutaion in a Girl with Infantile Spasms,2015

    • Author(s)
      Inoue T, Ishii A, Tsurusawa R, Nakamura N, Kanaumi T, Saitsu H, Kato M, Hirose S, Ogawa A.
    • Organizer
      The 13th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Neurological Complications of in-patients with Exanthem Subitum.2015

    • Author(s)
      Fujita T, Ideguchi H, Kawatani E, Tomonoh Y, Ihara Y, Kanaumi T, Inoue T, Takahashi Y, Hirose S, Yasumoto S.
    • Organizer
      The 13th Asian and Oceanian Congress of Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] A KCNQ2 Mutation Enhances Firing and GABA Release of GABAergic Interneurons in the Neonatal Hippocampus.2015

    • Author(s)
      Uchida T, Deshimaru M, Yanagawa Y, Koyama S,Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Immediate Suppression of Seizure Clusters by Corticosteroids in PCDH19 Female Epilepsy.2015

    • Author(s)
      Higurashi N, Takahashi Y, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Channelopathy in Early- life Seizures.2015

    • Author(s)
      Hirose S
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Genome Editing of SCN1A in iPS Cells to Study the Pahomechanisms of Dravet Syndorome.2015

    • Author(s)
      Tanaka Y, Sone T, Uchida T, Higurashi N, Ishikawa M, Okano H, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Identification of a De Novo KCNT1 Mutaion in a Girl with Infantile Spasms,2015

    • Author(s)
      Inoue T, Ishii A, Tsurusawa R, Nakamura N, Kanaumi T, Saitsu H, Kato M, Hirose S, Ogawa A
    • Organizer
      The 13th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Immediate Suppression of Seizure Clusters by Corticosteroids in PCDH19 Female Epilepsy.2015

    • Author(s)
      Higurashi N, Takahashi Y, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Neurological Complications of in-patients with Exanthem Subitum.2015

    • Author(s)
      Fujita T, Ideguchi H, Kawatani E, Tomonoh Y, Ihara Y, Kanaumi T, Inoue T, Takahashi Y, Hirose S, Yasumoto S.
    • Organizer
      The 13th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Genome Editing of SCN1A in iPS Cells to Study the Pahomechanisms of Dravet Syndorome.2015

    • Author(s)
      Tanaka Y, Sone T, Uchida T, Higurashi N, Ishikawa M, Okano H, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Retigabine, a Kv7.2 Channel Opener, Attenuated Drug-induced Seizures in Knock-in Mice Harboring KCNQ2 Mutations.2015

    • Author(s)
      Ihara Y, Tomonoh Y, Deshimaru M, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology,
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] Retigabine, a Kv7.2 Channel Opener, Attenuated Drug-induced Seizures in Knock-in Mice Harboring KCNQ2 Mutations.2015

    • Author(s)
      Ihara Y, Tomonoh Y, Deshimaru M, Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Channelopathy in Early- life Seizures.2015

    • Author(s)
      Hirose S
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H02548
  • [Presentation] A KCNQ2 Mutation Enhances Firing and GABA Release of GABAergic Interneurons in the Neonatal Hippocampus.2015

    • Author(s)
      Uchida T, Deshimaru M, Yanagawa Y, Koyama S,Hirose S.
    • Organizer
      The 13th Asian and Oceanian Congress od Child Neurology
    • Place of Presentation
      Taipei,Taiwan
    • Year and Date
      2015-05-14
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Newborn screening for Fabry disease:Prevalence and genotypes from a pilot study in Japan2014

    • Author(s)
      Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S.
    • Organizer
      The 2nd Asian Congress for Lysosomal Storage
    • Place of Presentation
      福岡
    • Year and Date
      2014-06-06
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Newborn screening for Fabry disease:Prevalence and genotypes from a pilot study in Japan2014

    • Author(s)
      Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S.
    • Organizer
      The 2nd Asian Congress for Lysosomal Storage
    • Place of Presentation
      福岡
    • Year and Date
      2014-06-06
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] KCNQ2 and KCNQ3 abnormalities in benign neonatal epilepsy (BNE): a genetic analysis of BNE in Japan2013

    • Author(s)
      Ihara Y, Ishii A, Kaneko S, Hirose S, The Epilepsy Genetic Study Group Japan
    • Organizer
      30Th international Epilepsy Congress
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Electrophysiogical Analysis of Mutant HCN Channels Found in Febrile Seizure Patients2013

    • Author(s)
      Nakamura Y, Shi X, Numata T,Mori Y,Inoue R,Hirose S.
    • Organizer
      Kecてんかん学会 Korean Epilepsy Congress 2013
    • Place of Presentation
      韓国 ソウル
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Molecular basis of benign familial infantile epilepsy and related syndromes2013

    • Author(s)
      Hirose S
    • Organizer
      30Th international Epilepsy Congress
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013

    • Author(s)
      Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J,Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
    • Organizer
      30Th international Epilepsy Congress
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] A Geneic Analysis of Benign Neonatal Epilepsy in Japan2013

    • Author(s)
      Ihara Y, Ishii A, Kaneko S, Hirose S
    • Organizer
      International Symposium on Neonatal Seizures and Related Disorders(ISNS)The 15th Annual Meeting of Infantile Seizure Society(ISS)
    • Place of Presentation
      Tokyo, Japan
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Novel HCN2 mutation found in febrile seizure patients affects temperature sensitivity2013

    • Author(s)
      Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S,
    • Organizer
      The 11th Korea-Japan Joint Symposium of Brain Sciences, and Cardiac and Smooth Muscle Sciences
    • Place of Presentation
      Hamamatsu , Japan
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] KCNQ2 Mutation Enhances Firing Activity of Gabaergic Interneurons in the Hippocampus of Neonatal Mice2013

    • Author(s)
      Uchida T, Deshimaru M, Koyama S, Yanagawa Y, Hirose S.
    • Organizer
      Korean Epilepsy Congress 2013
    • Place of Presentation
      Seoul, Korea
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Molecular basis of benign familial infantile epilepsy and related syndromes2013

    • Author(s)
      Hirose S
    • Organizer
      モントリオールてんかん学会 30Th international Epilepsy Congress 2013
    • Place of Presentation
      "Montreal,Canada
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Novel HCN2 mutation found in febrile seizure patients affects temperature sensitivity2013

    • Author(s)
      Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S.
    • Organizer
      The 11th Korea-Japan Joint Symposium of Brain Sciences,and Cardiac and Smooth Muscle Sciences
    • Place of Presentation
      Hamamatsu, Japan
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Frequency of Mutations of KCNQ2 and KCNQ3 in Benign Neonatal Epilepsy in Japan2013

    • Author(s)
      Hirose S, Ihara Y, Ishii A.
    • Organizer
      Korean Epilepsy Congress 2013
    • Place of Presentation
      Seoul, Korea
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Molecular basis of benign familial infantile epilepsy and related syndromes2013

    • Author(s)
      Hirose S
    • Organizer
      30Th international Epilepsy Congress
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] A Geneic analysis of Benign Neonatal Epilepsy in Japan2013

    • Author(s)
      Ihara Y, Ishii A, Kaneko S, Hirose S
    • Organizer
      International Symposium on Neonatal Seizures and Related Disorders(ISNS)The 15th Annual Meeting of Infantile Seizure Society(ISS)
    • Place of Presentation
      Tokyo,Japan
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] KCNQ2 and KCNQ3 abnormalities in benign neonatal epilepsy(BNE):a genetic analysis of BNE in Japan2013

    • Author(s)
      Ihara Y,Ishii A, Kaneko S,  Hirose S,  The Epilepsy Genetic Study Group Japan {Chairperson , SK}{Japan}
    • Organizer
      モントリオールてんかん学会30Th international Epilepsy Congress 2013
    • Place of Presentation
      モントリオール Canada
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] A Genetic Analysis of Benign Neonatal Epilepsy in Japan2013

    • Author(s)
      IharaY,IshiiA, KanekoS,HiroseS.
    • Organizer
      International Symposium on Neontal Seizures and Related Disorders (ISNS) The 15th Annual Meeting of Infantile Seizure Society(ISS)
    • Place of Presentation
      Tokyo,Japan
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] KCNQ2 Mutation Enhances Firing Activity of Gabaergic Interneurons in the Hippocampus of Neonatal Mice2013

    • Author(s)
      Uchida T,Deshimaru M,Koyama S,Yanagawa Y,Hirose S.
    • Organizer
      kecてんかん学会 Korean Epilepsy Congress 2013
    • Place of Presentation
      韓国 ソウル
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Novel HCN2 mutation found in febrile seizure patients affects temperature sensitivity2013

    • Author(s)
      Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S.
    • Organizer
      The 11th Korea-Japan Joint Symposium of Brain Sciences,and Cardiac and Smooth Muscle Sciences
    • Place of Presentation
      Hamamatsu, Japan
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] KCNQ2 Mutation Enhances Firing Activity of Gabaergic Interneurons in the Hippocampus of Neonatal Mice2013

    • Author(s)
      Uchida T, Deshimaru M, Koyama S, Yanagawa Y, Hirose S.
    • Organizer
      Korean Epilepsy Congress 2013
    • Place of Presentation
      Seoul, Korea
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Electrophysiogical Analysis of Mutant HCN Channels Found in Febrile Seizure Patients2013

    • Author(s)
      Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S.
    • Organizer
      Korean Epilepsy Congress 2013
    • Place of Presentation
      Seoul, Korea
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] KCNQ2 and KCNQ3 abnormalities in benign neonatal epilepsy (BNE): a genetic analysis of BNE in Japan2013

    • Author(s)
      Ihara Y, Ishii A, Kaneko S, Hirose S, The Epilepsy Genetic Study Group Japan
    • Organizer
      30Th international Epilepsy Congress
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Frequency of Mutations of KCNQ2 and KCNQ3 in Benign Neonatal Epilepsy in Japan2013

    • Author(s)
      Hirose S, Ihara Y, Ishii A.
    • Organizer
      kecてんかん学会 Korean Epilepsy Congress 2013
    • Place of Presentation
      韓国 ソウル
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] けいれん重積型急性脳症と熱性けいれんの遺伝的素因の比較―サイトカイン遺伝子多型解析―.2013

    • Author(s)
      齋藤真木子, 星野愛, 久保田雅也, 菊池健二郎, 山中岳, 廣瀬伸一, 水口雅
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      iichiko総合文化センター(大分県)
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013

    • Author(s)
      Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H,Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
    • Organizer
      30Th international Epilepsy Congress
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013

    • Author(s)
      Ishii A,Saito Y, Mitsui J, Ishiura H, Yoshimura J,Arai H, Yamashita S, Kimura S, Oguni H, Morishita S,Tsuji S, Sasaki M, Hirose s{Japan}
    • Organizer
      モントリオールてんかん学会30Th international Epilepsy Congress 2013
    • Place of Presentation
      モントリオール Canada
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Electrophysiogical Analysis of Mutant HCN Channels Found in Febrile Seizure Patients2013

    • Author(s)
      Nakamura Y, Shi X, Numata T, Mori Y, Inoue R, Hirose S.
    • Organizer
      Korean Epilepsy Congress 2013
    • Place of Presentation
      Seoul, Korea
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] 二相性けいれんと遅発性拡散低下を呈する急性脳症(AESD)の予後予測に関する検討.2013

    • Author(s)
      多田弘子, 高梨潤一, 山形崇倫, 奥野英夫, 久保田雅也, 河野剛, 椎原隆, 浜野晋一郎, 廣瀬伸一, 水口雅
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      iichiko総合文化センター(大分県)
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] Frequency of Mutations of KCNQ2 and KCNQ3 in Benign Neonatal Epilepsy in Japan2013

    • Author(s)
      Hirose S, Ihara Y, Ishii A.
    • Organizer
      Korean Epilepsy Congress 2013
    • Place of Presentation
      Seoul, Korea
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in japanese patients2012

    • Author(s)
      Ishii A,Hirose S.
    • Organizer
      symposium ATP1A3 in disease from gene mutations to new treatments
    • Place of Presentation
      Brussels,Belglum-
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] 急性脳症におけるSCN1A遺伝子解2012

    • Author(s)
      斎藤真木子, 篠原麻由, 星野英紀, 久保田雅也, 雨宮馨, 高梨潤一, 黄壽梛, 廣瀬伸一, 水口雅.
    • Organizer
      第54回日本小児神経学会総会
    • Place of Presentation
      ロイトン札幌(北海道)
    • Year and Date
      2012-05-17
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] Neutral Hyperexcitability and the Effects of KCNQ Channel Openers on Pentylenetetrazole Induced Seizures on Mice in BFNS2012

    • Author(s)
      Tomonoh Y,Saito R,Araki K,Deshimaru M,Takano Y,Hirose S.
    • Organizer
      12th international child Neurology Congress of Child Nuerology
    • Place of Presentation
      Brisbane,Australia
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Genetic analysis of Alternating Childhood2012

    • Author(s)
      Ishii A,saito Y,Sasaki M,Hirose S.
    • Organizer
      10th European Congress of Epileptology
    • Place of Presentation
      London,UK
    • Year and Date
      2012-09-30
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in japanese patients2012

    • Author(s)
      Ishii A, Hirose S.
    • Organizer
      Symposium ATP1A3 in disease from gene mutations to new treatments
    • Place of Presentation
      Brussels, Belglum
    • Invited
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Neural Hyperexcitability and the Effects of KCNQChannel Openers on Pentylenetetrazole Induced Seizures on Model Mice in BFNS2012

    • Author(s)
      Tomonoh Y, Saito R, Araki K, Deshimaru M,Takano Y,Hirose s.
    • Organizer
      12th International Child Neurology Congress/11th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Brisbane, Australia
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choleoathetosis syndrom,and benign convulsions with mild gastroenteritis2012

    • Author(s)
      Ishii A,Yasumoto S,Ihara Y, Inoue T,Fujita T,Nakamura N,Ohfu M,Lee WT,Kaneko S, Hirose S.
    • Organizer
      2012Korea Epilepsy congress
    • Place of Presentation
      Incheon,Korea
    • Year and Date
      2012-06-08
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in japanese patients2012

    • Author(s)
      Ishii A, Hirose S.
    • Organizer
      Symposium ATP1A3 in disease from gene mutations to new treatments
    • Place of Presentation
      Brussels, Belglum
    • Invited
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Genetics of benign neonatal seizures2012

    • Author(s)
      Hirose S.
    • Organizer
      12th international Child Neurology Congress/11th Asian and Oceanian Congress of Child Neurology.
    • Place of Presentation
      Brisbane, Australia
    • Invited
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Acute encephalopathy with biphasic seizures and late reduced diffusion [AESD]における早期診断に関する後方視的検討.2012

    • Author(s)
      多田弘子, 高梨潤一, 山形崇倫, 奥野英夫, 久保田雅也, 河野剛, 椎原隆, 浜野晋一郎, 廣瀬伸一, 水口雅.
    • Organizer
      第54回日本小児神経学会総会
    • Place of Presentation
      ロイトン札幌(北海道)
    • Year and Date
      2012-05-17
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] Genetics of benign neonatal seizures2012

    • Author(s)
      Hirose S.
    • Organizer
      12th international child Neurology Congress of Child Nuerology
    • Place of Presentation
      Brisbane,Australia
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Neural Hyperexcitability and the Effects of KCNQ Channel Openers on Pentylenetetrazole Induced Seizures on Model Mice in BFNS2012

    • Author(s)
      Tomonoh Y, Saito R, Araki K, Deshimaru M, Takano Y, Hirose S.
    • Organizer
      12th international Child Neurology Congress/11th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Brisbane, Australia
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] Genetics of benign neonatal seizures2012

    • Author(s)
      Hirose S.
    • Organizer
      12th international Child Neurology Congress/ 11th Asian and Oceanian congress of Child Neurology
    • Place of Presentation
      Brisbane, Australia
    • Invited
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Genetically engineered animal models for epilepsy "Basic Science Session2011

    • Author(s)
      Hirose S
    • Organizer
      KES韓国てんかん学会
    • Place of Presentation
      仁川(招待講演)
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] The development of the DNA chip which aimed at the clinical application in epilepsy.2011

    • Author(s)
      Sugawara T., Yoshida S., Wada K., Hirose S., Iwasa H., Kaneko S.
    • Organizer
      29th International Epilepsy Congress
    • Place of Presentation
      Roma
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Aoutosomal Dominant Nocturnal Frontal Lobe Epilepsy: A Genotypic Comparative Study of Japanese and Korean Families Carrying the CHRNA4 Ser284Leu Mutation2011

    • Author(s)
      Su-Kyeong Hwang Makita Y., Kurahashi H., Yong-Won Cho, Hirose S
    • Organizer
      KES 韓国てんかん学会
    • Place of Presentation
      韓国
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Autosomal Dominant nocturnal frontal Lobe Epilepsy:A Genotypic Comparative Study of Japanese and Korean Families Carrying the CHRNA4Ser284LeuMutation2011

    • Author(s)
      Su-Kyeong Hwang,Makita Y,Kurahashi H, Yong-Won Cho, Hirose S.
    • Organizer
      KES 韓国てんかん学会
    • Place of Presentation
      韓国
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] The development of the DNA chip which aimed at the clinical application in epilepsy2011

    • Author(s)
      Sugawara T,Yoshida S, Wda K, Hirose S, Iwasa H,Kaneko S.
    • Organizer
      29th International Epilepsy Congress.
    • Place of Presentation
      Rome
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Prior administration of urinastatin decrease the total dosage of gamma-glolin in early stage Kawasaki disease2011

    • Author(s)
      Yosikane Y, Hashimoto J, Ueda M, Ogawa A, Hirose S
    • Organizer
      45^<th> Annual ameeting of the ssociation for European
    • Place of Presentation
      Spain Granada
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Aoutosomal Dominant Nocturnal Frontal Lobe Epilepsy : A Genotypic Comparative Study of Japanese and Korean Families Carrying the CHRNA4 Ser284Leu Mutation2011

    • Author(s)
      Su-Kyeong Hwang Makita Y., Kurahashi H., Yong-Won Cho, Hirose S
    • Organizer
      KES韓国てんかん学会
    • Place of Presentation
      仁川
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Update for genetics of epilepsy plenary session2011

    • Author(s)
      Hirose S
    • Organizer
      KES韓国てんかん学会
    • Place of Presentation
      仁川(招待講演)
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Update for genetics of epilepsy plenary session2011

    • Author(s)
      Hirose S.
    • Organizer
      KES 韓国てんかん学会(招待講演)
    • Place of Presentation
      韓国
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Steroid pulse therapy as an effective treatment for refractory epilepsy in children with glutamate receptor (GLUR) antibodies2011

    • Author(s)
      Yasumoto S, Ihara Y, Fujita T, Tomonoh Y, Ninomiya S, Nakamura N, Ideguchi H, Inoue T, Takahashi Y, Hirose S.
    • Organizer
      29thInternational Epilepsy Congress
    • Place of Presentation
      Rome
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Guideline for genetic diagnosis for epilepsy2011

    • Author(s)
      Hirose s.
    • Organizer
      KES 韓国てんかん学会
    • Place of Presentation
      韓国
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] The development of the DNA chip which aimed at the clinical application in epilepsy2011

    • Author(s)
      Sugawara T., Yoshida S., Wada K., Hirose S., Iwasa H., Kaneko S.
    • Organizer
      29^<th> International Epilepsy Congress
    • Place of Presentation
      Roma
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Steroid pulse therapy as an effective treatment for refractory epilepsy in children with glutamate receptor (GluR) antibodies2011

    • Author(s)
      Yasumoto S., Ihara Y., Fujita T., Tomonoh Y., Ninomiya S., Nakamura N., Ideguchi H., Inoue T., Takahashi Y., Hirose S.
    • Organizer
      29^<th> International Epilepsy Congress
    • Place of Presentation
      Roma
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Update for genetics of epilepsy Basic Science Session2011

    • Author(s)
      Hirose S.
    • Organizer
      KES韓国てんかん学会
    • Place of Presentation
      韓国
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Guideline for genetic diagnosis for epilepsy2011

    • Author(s)
      Hirose S.
    • Organizer
      KES 韓国てんかん学会(招待講演)
    • Place of Presentation
      韓国
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Steroid pulse therapy as an effective treatment for refractory epilepsy in children with glutamate receptor (GluR) antibodies.2011

    • Author(s)
      Yasumoto S., Ihara Y., Fujita T.,Tomonoh Y., Ninomiya S., Nakamura N., Ideguchi H.,Inoue T.,Takahashi Y.,Hirose S.
    • Organizer
      29th International Epilepsy Congress
    • Place of Presentation
      Roma
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Guideline for genetic diagnosis for epilepsy2011

    • Author(s)
      Hirose S
    • Organizer
      KES韓国てんかん学会
    • Place of Presentation
      仁川(招待講演)
    • Year and Date
      2011-06-24
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] "Genetically engineered animal models for epilepsy " Basic Science Session2011

    • Author(s)
      Hirose S.
    • Organizer
      KES 韓国てんかん学会(招待講演)
    • Place of Presentation
      韓国
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] Genetics of Human Epilepsy2010

    • Author(s)
      廣瀬伸一
    • Organizer
      National Institute of Neurological Disorders and Stroke
    • Place of Presentation
      San Diego アメリカ
    • Year and Date
      2010-08-30
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] てんかん遺伝子研究の進歩とその臨床応用2010

    • Author(s)
      廣瀬伸一
    • Organizer
      南大阪小児疾患研究会
    • Place of Presentation
      大阪
    • Year and Date
      2010-02-06
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] A Neuronal Ceroid-Lipofuscinosis case with Epilepsy and Sick Sinus Syndrome2010

    • Author(s)
      Yukiko Ihara, Yuko Tomonoh, Takako Fujita, Hiroshi Ideguchi, Takahito Inoue, Sawa Yasumoto, Shinichi Hirose
    • Organizer
      The 1st Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] The Neurological prognosis of organic academia2010

    • Author(s)
      Takako Fujita, Yukiko Ihara, yuko Tomonoh, Shinya Ninomiya, Yurie Kodama, Hitoshi Ideguchi, Takahito Inoue, Sawa Yasumoto, Shinichi Hirose
    • Organizer
      The 1st Asian Congress for InheritedMetabolic Diseases
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] てんかん遺伝子研究の進歩とその臨床応用2010

    • Author(s)
      廣瀬伸一
    • Organizer
      南大阪小児疾患研究会
    • Place of Presentation
      大阪 近畿大学大阪狭山キャンパス
    • Year and Date
      2010-02-06
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Progressive mycolonus epilepsy due to Gaucher disease type 3 without hepatosplenomegaly2010

    • Author(s)
      Norimichi Higurashi, Shin-ichiro Hamano, Asako Tajima, Toya Ohashi, Hiroyuki Ide, Shinichi hirose
    • Organizer
      The 1st Asian Congressfor Inherited Metabolic Diseases
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Genetic variants associated with epilepsy causation2010

    • Author(s)
      廣瀬伸一
    • Organizer
      The 8^<th> Asian & Oseanian Epilepsy Congress
    • Place of Presentation
      オーストラリア メルボルン
    • Year and Date
      2010-10-18
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Transgenic rat models for epilepsy2010

    • Author(s)
      廣瀬伸一
    • Organizer
      ASEPA workshop
    • Place of Presentation
      オーストラリア メルボルン
    • Year and Date
      2010-10-20
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] てんかん遺伝子研究の進歩とその臨床応用2010

    • Author(s)
      廣瀬伸一
    • Organizer
      南大阪小児疾患研究会
    • Place of Presentation
      大阪 近畿大学大阪狭山キャンパス
    • Year and Date
      2010-02-06
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] Complications in a metachromatic leukodystrophy(MLD) patient's long-term-follow up:neurologic complications./ Takahito Inoue2010

    • Author(s)
      Michitaka Yonekura, Takako Fujita, Yukiko Ihara, Yuko Tomonoh, Hitoshi Ideguchi, Sawa Yasumoto, Shiho Kodama, Shinichi Hirose.
    • Organizer
      The 1st Asian Congress for Inherited Metabolic Diseases
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Clinical usefulness of Genetic Advances in Childhood Epilepsy2010

    • Author(s)
      廣瀬伸一
    • Organizer
      Postgraduate Institude of Medical Education & Research
    • Place of Presentation
      インド チャンディガ
    • Year and Date
      2010-12-28
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] てんかんの遺伝子研究の進歩とその臨床応用2009

    • Author(s)
      廣瀬伸一
    • Organizer
      第21回山梨神経学研究会学術講演会
    • Place of Presentation
      山梨 古奈屋ホテル
    • Year and Date
      2009-06-02
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] てんかんの遺伝子研究の進歩とその臨床応用2009

    • Author(s)
      廣瀬伸一
    • Organizer
      第21回山梨神経学研究会学術講演会
    • Place of Presentation
      山梨 古奈屋ホテル
    • Year and Date
      2009-06-02
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Genetics of febrile Serizures and Related Conditions2009

    • Author(s)
      Hirose S
    • Organizer
      10th Asian & Oseanian Cogress of Child Nuerology
    • Place of Presentation
      Korea
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Mutational analysis for repetitive febrile seizuresand sporadic febrile seizures plus in JapaneseHirose, S2009

    • Author(s)
      Hirose S
    • Organizer
      8th European Congress onEpileptology
    • Place of Presentation
      Berlin
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] てんかんの遺伝子研究の進歩とその臨床応用2009

    • Author(s)
      廣瀬伸一
    • Organizer
      第21回山梨神経学研究会学術講演会
    • Place of Presentation
      山梨
    • Year and Date
      2009-06-02
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Genetics of febrile Serizures and Related Conditions2009

    • Author(s)
      廣瀬伸一
    • Organizer
      10^<th> Asian & Oseanian Cogress of Child Nuerology
    • Place of Presentation
      Daegu, Korea Interburgu-EXCO Hotel
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] Genetics of febrile Serizures and Related Conditions2009

    • Author(s)
      廣瀬伸一
    • Organizer
      10^<th> Asian & Oseanian Cogress of Child Nuerology
    • Place of Presentation
      Daegu, Korea Interburgu-EXCO Hotel
    • Data Source
      KAKENHI-PROJECT-21249062
  • [Presentation] Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ22008

    • Author(s)
      Hirose s.
    • Organizer
      8th European Congress on Epileptology
    • Place of Presentation
      . Berlin
    • Year and Date
      2008-09-22
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] A De Novo KCNQ2 Mutation Detected in Benign Neonatal Convulsions : Possible Involvement Of Genes responsible for Rare Inherited Epilepsy in Idiopathic Epilepsy2008

    • Author(s)
      Ishii A., Fukuma G., Uehara A., Yasukochi M., Miyajima T., Makita Y., Hamachi A., Yonetani M., Inoue T., Okada M., Kaneko S., Hirose S.
    • Organizer
      The 4^<th> Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] The Application of Genetic Tests for Epilepsy-arethere Guidelines for Clinicians?2008

    • Author(s)
      Hirose S
    • Organizer
      7^<th> Asian &amp; Oceanian Epilepsy Congress Xiamen,China
    • Place of Presentation
      Xiamen
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] The Application of Genetic Tests for Epilepsy-are there Guidelines for Clinicians?2008

    • Author(s)
      Hirose S.
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress Xiamen, China
    • Place of Presentation
      Xiamen
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Recent advances in the genetics of epilepsyJoint2008

    • Author(s)
      Hirose S.
    • Organizer
      7^<th> Human Genome Organization(HUGO)
    • Place of Presentation
      1-7cebu, Philippine
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Myoclonic-Astatic Epilepsy with Focal Spike Discharge may have Unfavourable Prognosis2008

    • Author(s)
      Ideguchi H., Inoue T., Ninomiya S., Fujita T., Nakamura N., Yasumoto S., Hirose S.
    • Place of Presentation
      Xiamen, China
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Prognoses of the Neonates of Multiple Births Admitted in NICU in recent Years2008

    • Author(s)
      Inoue T, Tsutsumi M, Kiposhita R, Ohta E, Nakamura M, Mori T, Hirose S.
    • Organizer
      15^<th> Congress of the FAOPS
    • Place of Presentation
      Nagoya, JAPAN
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Perinatal Characteristics of Early-Onset Sepsis in Neonatal Intensive Care Unit in Recent Years2008

    • Author(s)
      Tsutsumi M., Ohta E., Inoue T., Kinoshita R., Nakamura M., Mori T., Hirose S.
    • Organizer
      The 4^<th> Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Myoclonic-Astatic Epilepsy with Focal Spike Discharge may have Unfavourable Prognosis2008

    • Author(s)
      Ideguchi H, Inoue T, Ninomiya S, Fujita T, Nakamura N, Yasumoto S, Hirose S.
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress Xiamen
    • Place of Presentation
      Xiamen, CHINA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Psychomotor Retardation Aggravated by Infantile Non-convpislve Status Epileptics in Angelman Syndrome2008

    • Author(s)
      Ninomiya S, Nakamura N, Fujita T, Ideguchi H, Inoue T., Yasumoto S, Hirose S.
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress Xiamen
    • Place of Presentation
      Xiamen, CHINA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Mutational analysis for repetitive febrile seizures and sporadic febrile seizures plus in Japanese2008

    • Author(s)
      Hirose s.
    • Organizer
      8th European Congress on Epileptology
    • Place of Presentation
      . Berlin
    • Year and Date
      2008-09-20
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Recent advances in the genetics of epilepsyJoint/Hirose S2008

    • Author(s)
      Hirose S
    • Organizer
      7^<th> Human Genome Organization(HUGO)
    • Place of Presentation
      セブ,フィリピン
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] The Application of Genetic Tests for Epilepsy-are there Guidelines for Clinicians?2008

    • Author(s)
      Hirose S
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress Xiamen
    • Place of Presentation
      Xiamen, CHINA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Study of Septicemia Due to Enterbacter Cloacae in a Tertiary Neonatal Intensive Care Unit during 1997-20072008

    • Author(s)
      Ohta E, Setoue T, Tsutsumi M, Inoue S, Kinoshita R, Nakamura M, Mori T, Ogawa A, Hirose S.
    • Organizer
      15^<th> Congress of the FAOPS
    • Place of Presentation
      Nagoya, JAPAN
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Study of Septicemia Due to Enterbacter Cloacae in a Tertiary Neonatal Intensive Care Unit during 1997-20072008

    • Author(s)
      Ohta E., Setoue T., Tsutsumi M., Inoue S., Kinoshita R., Nakamura M., Mori T., Ogawa A., Hirose S.
    • Organizer
      15^<th> Congress of the FAOPS
    • Place of Presentation
      Nagoya
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Retrospective Analysis of Prenatally Detected Congenital Heart Defects : Six-year Experience of 4 Institutions in Japan2008

    • Author(s)
      Yashikane Y, Yoshizato T, Meno Y, Nishibatake M, Kan N, Fusazaki N, Hirose S.
    • Organizer
      15^<th> Congress of the FAOPS
    • Place of Presentation
      Nagoya, JAPAN
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Prognoses of the Neonates of Multiple Births Admitted in NICU in recent Years2008

    • Author(s)
      Inoue T., Tsutsumi M., Kinoshita R., Ohta E., Nakamura M., Mori T., Hirose S.
    • Organizer
      15th Congress of the FAOPS
    • Place of Presentation
      Nagoya
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Retrospective Analysis of Prenatally Detected Congenital Heart Defects : Six-year Experience of 4 Institutions in Japan2008

    • Author(s)
      Yashikane Y., Yoshizato T., Meno Y., Nishibatake M., Kan N., Fusazaki N.,Hirose S.
    • Organizer
      15^<th> Congress of the FAOPS
    • Place of Presentation
      Nagoya
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Genome-Wide Identification of Febrile Seizure and Related Epilepsy Phenotype Loci2008

    • Author(s)
      Miyashita A., Kuwano R., Kojima T., Sasaki T., Zhu G, Kanai K., Fujita K., Hirose S., Kaneko S.
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress
    • Place of Presentation
      Xiamen, China
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Benign childhood epilepsy with centrotemporalspikes following benign neonatal seizures resultingfrom a mutation of KCNQ2 Hirose, S2008

    • Author(s)
      Hirose S
    • Organizer
      8^<th> European Congress on Epileptology European Congress on Epileptology
    • Place of Presentation
      Berlin
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ22008

    • Author(s)
      Hirose S.
    • Organizer
      8th European Congress on Epileptology
    • Place of Presentation
      Berlin
    • Year and Date
      2008-09-22
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] Recent advances in the genetics of epilepsy Joint2008

    • Author(s)
      Hirose S.
    • Organizer
      7^<th> Human Genome Organization (HUGO)
    • Place of Presentation
      セブ、フィリピン
    • Year and Date
      2008-04-05
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] Mutational analysis for repetitive febrile seizures and sporadic febrile seizures plus in Japanese2008

    • Author(s)
      Hirose, S.
    • Organizer
      8th European Congress on Epileptology
    • Place of Presentation
      Berlin
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Perinatal Characteristics of Early-Onset Sepsis in Neonatal Intensive Care Unit in Recent Years2008

    • Author(s)
      Tsutsumi M, Ohta E, Inoue T, Kinoshita R, Nakamura M, Mori T. Hirose S.
    • Organizer
      The 4^<th> Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Update on the genetics of Epilepsy : Potential clinical applications2008

    • Author(s)
      Hirose S
    • Organizer
      Annual meeting for Thai Child Neurology Society
    • Place of Presentation
      Thailand
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Non-convulsive Status Epilepticuso of Temporal Lobe Epilepsy Misdiagnosed as a Psychosomatic Disease2008

    • Author(s)
      Fujita T, Nakamura N, Inoue T, Ninomiya S, Ihara Y, Tomonou Y, Ideguchi H, Yasumoto S. Mitsudome A. Hirose S.
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress Xiamen
    • Place of Presentation
      Xiamen, CHINA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] The present Status and Problem of Plenatal Screening of Congenital Heart Defects ; 4 Major Refernal Centers in Kyusyu, Japan2008

    • Author(s)
      Yoshikane Y., Yoshizato T., Maeno Y., Nishibatake M., Kam N., Fusazaki N., Hirose S.
    • Organizer
      The 2^<nd> Asia-Pacific Congress of Pediatrics Cordiology and Cardiac Surgery
    • Place of Presentation
      Korea
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Psychomotor Retardation Aggravated by Infantile Non-convulsive Status Epileptics in Angelman Syndrome2008

    • Author(s)
      Ninomiya S., Nakamura N., Fujita T., Ideguchi H., Inoue T., Yasumoto S., Hirose S.
    • Place of Presentation
      Xiamen, China
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] EEG Findings on Headache with MELAS2008

    • Author(s)
      Ihara Y, Fujita T, Inoue T, Yasumoto S, Mitsudome A, Hirose S.
    • Organizer
      7^<th> Asian & Oceanian Epilepsy Congress Xiamen
    • Place of Presentation
      Xiamen, CHINA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] A De Novo KCNQ2 Mutation Detected in Benign Neonatal Convulsions : Possible Involvement Of Genes responsible for Rare Inherited Epilepsy in Idiopathic Epilepsy2008

    • Author(s)
      Ishii A, Fukuma G, Uehara A, Yasukochi M, Miyajima T, Makita Y, Hamachi A, Yonetani M, Inoue T, Okada M, Kaneko S, and Hirose S.
    • Organizer
      The 4^<th> Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] EEG Findings on Headache with MELAS2008

    • Author(s)
      Ihara Y., Fujita T., Inoue T., Yasumoto S., Mitsudome A., Hirose S.
    • Place of Presentation
      Xiamen, China
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Recent advances in the genetics of epilepsy Joint2008

    • Author(s)
      Hirose s.
    • Organizer
      7^<th> Human Genome Organization (HUGO)
    • Place of Presentation
      セブ、フィリピン
    • Year and Date
      2008-04-05
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] The present Status and Problem of Plenatal Screening of Congenital Heart Defects ; 4 Major Refernal Centers in Kyusyu, Japan2008

    • Author(s)
      Yoshikane Y, Yoshizato T, Maeno Y, Nishibatake M, Kam N, Fusazaki N, Hirose S.
    • Organizer
      The 2^<nd> Asia-Pacific Congress of Pediatrics Cordiology and Cardiac Surgery
    • Place of Presentation
      Korea
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Mutational analysis for repetitive febrile seizures and sporadic febrile seizures plus in Japanese2008

    • Author(s)
      Hirose S.
    • Organizer
      8th European Congress on Epileptology
    • Place of Presentation
      Berlin
    • Year and Date
      2008-09-20
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] Non-convulsive status Lpilepticuso of Temporal Lobe Epilepsy Misdiagnosed as a Psychosomatic Disease2008

    • Author(s)
      Fujita T., Nakamura N., Inoue T., ninomiya S., Ihara Y., Tomonou Y., Ideguchi H., Yasumoto S., Mitsudome A., Hirose S.
    • Place of Presentation
      Xiamen, China
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Mutation screening of AP3M2 in Japanese epilepsy/Ming2007

    • Author(s)
      Hirose S., et. al.
    • Organizer
      HUGO s 12th Human Genome Meeting
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] てんかんの個別化治療の開発に関する研究.2007

    • Author(s)
      兼子直, 岩佐博人, 古郡規雄, 岡田元宏, 土嶺章子, 佐々木智美, 藤井学, 吉田秀一, 廣瀬伸一, 石津棟暎, 小国弘量, 大澤真木子, 前澤真理子, 小島俊男, 金井数明, 和田一丸.
    • Organizer
      平成19年度精神・神経疾患研究委託費(19指-6)研究報告会
    • Place of Presentation
      東京
    • Year and Date
      2007-12-16
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] 乳児重症ミオクロニー患者におけるSCN1A遺伝子を含んだ染色体微小欠失.2007

    • Author(s)
      倉橋宏和, 王紀文, 大府正治, 井上貴仁, 小川厚, 安元佐和, 小島俊男, 兼子直, 廣瀬伸一.
    • Organizer
      第41回日本てんかん学会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] MICRO DELETION OF SCNIA IS ASSOCIATED NOT ONLY、 WITH SEVERE MYOCLONIC EPILEPSY IN INFANCY BUT ALSO、 WITH ITS BODERLINE PHENOTYPE2007

    • Author(s)
      Hirose S., et. al.
    • Organizer
      the International congress of Pediatrics
    • Place of Presentation
      Athens Greece
    • Data Source
      KAKENHI-PROJECT-19659272
  • [Presentation] ポア形成領域以外に生じたSCN1Aミスセンス変異のアミノ酸置換が表現型に与える影響.2007

    • Author(s)
      金井数明, 廣瀬伸一, 小国弘量, 福間五龍, 桑原聡, 吉田秀一, 澤井摂, 岩佐博人, 清水俊夫, 伊藤正利, 服部孝道, 兼子直.
    • Organizer
      第41回日本てんかん学会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] てんかん・熱性けいれん遺伝子解析グループ.マイクロサテライトマーカーを用いたFS・GEFS+・SMEIにおける新規責任遺伝子の網羅的検索(第1報).2007

    • Author(s)
      吉田秀一, 桑野良三, 宮下哲典, 小島俊男, 佐々木智美, 朱剛, 金井数明, 伊藤正利, 藤田浩史, 廣瀬伸一, 兼子直, ,
    • Organizer
      第1回日本てんかん学会東北地方会
    • Place of Presentation
      仙台
    • Year and Date
      2007-07-14
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Presentation] Midazolam for the treatment of neonatal EEG-confirmed seizures2007

    • Author(s)
      Ogawa A., Shiratani G, Hashimoto J., Mori S., Yukitake K., Hirose S.
    • Organizer
      27^<th> International Epilepsy Congress
    • Place of Presentation
      Singapore
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] MICRO DELETION OF SCNIA IS ASSOCIAITED NOT ONLY、 WITH SEVERE MYOCL ONIC EPILEPSY INFANCY BUT ALSO、 WITH ITS BODERLINE PHENOTYPE2007

    • Author(s)
      Hirose S., et. al.
    • Organizer
      the International congress of Pediatrics
    • Place of Presentation
      Athens Greece
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Fetal infection of Hilicobacter cinaedi manifested by fetal distress and mucous diarrhea at birth2007

    • Author(s)
      Ohta E., Fujiwara C., Mori T., Ogawa A., Adachi M., Obama H., Kawarabayashi T., Yamaguchi S.,Ono J., Hirose S.
    • Organizer
      25^<th> International Congress of Pediatrics
    • Place of Presentation
      Athenes, Greece
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Pediarictors of surgical treatment for patient ductus arteriosus in extremely low birth weight infants2007

    • Author(s)
      Yoshikane Y., Mori T., Yukitake K., Hirose S.
    • Organizer
      25^<th> International Congres of Pediatrics
    • Place of Presentation
      Athenes, Greece
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Mutation screening of AP3M2 in Japanese epilepsy/Ming2007

    • Author(s)
      Hirose S., et. al.
    • Organizer
      HUGO's 12th Human Genome Mceting
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Micro deletional Mutation of SCN1A in Individuals with Severe Myoclonic Epilepsy in Fancy(SMEI) and Borderline SMEI2007

    • Author(s)
      Wang J., Kurahashi K., Hamachi A., Yonetani M., Inoue T., Ogawa A., Hirose S., Yasumoto S., Kaneko S.
    • Organizer
      27^<th> International Epilepsy Congress
    • Place of Presentation
      Singapole
    • Data Source
      KAKENHI-PROJECT-18209035
  • [Presentation] Transgenic Rats Harbouring a CHRNA4 Mutation Exhibit Characteristic Seizure Phenotypes of Nocturnal Frontal Lobe Epilepsy2005

    • Author(s)
      S Hirose, M Okada, et. al.
    • Organizer
      26th International Epilepsy Congress
    • Place of Presentation
      Paris
    • Year and Date
      2005-08-30
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390329
  • [Presentation] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

    • Author(s)
      Okumura A, Ishii A, Shioda M, Kidokoro H, Sakauchi, M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamaoto T.
    • Organizer
      The 16th annual meeting of the infantile seizure society
    • Place of Presentation
      TURKEY
    • Year and Date
      2014-06-22 – 2014-06-27
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] A neonatal case of malignant migrating partial seizures in infancy

    • Author(s)
      Sato T, Watanabe Y, Watanabe K, Yamashita M, Hashimoto K, Dateki S, Shirakawa T, Nakashima Y, Ihara Y, Ishii A, Hirose S, Moriuchi H
    • Organizer
      The 16th annual meeting of the infantile seizure society
    • Place of Presentation
      TURKEY
    • Year and Date
      2014-06-22 – 2014-06-27
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] THE pathomechanisms of Dravet syndome:Lessons From patient-Derived Induced Pluripotent stem Cells(iPSCs)

    • Author(s)
      Hirose S
    • Organizer
      The 16th annual meeting of the infantile seizure society
    • Place of Presentation
      TURKEY
    • Year and Date
      2014-06-22 – 2014-06-27
    • Invited
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] けいれん重積型急性脳症におけるナトリウムチャネルSCN1AおよびSCN2A変異解析

    • Author(s)
      齋藤真木子, 石井敦士, 井原由紀子, 星野愛, 寺嶋宙, 久保田雅也, 山中岳, 河島尚志, 菊池健二郎, 雨宮馨,亀井淳,廣瀬伸一,水口雅
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      アクトシティ浜松(静岡県)
    • Year and Date
      2014-05-29 – 2014-05-31
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] テオフィリン関連急性脳症における複数の遺伝的素因

    • Author(s)
      齋藤真木子, 塩見正司, 山形崇倫, 亀井淳, 赤坂真奈美, 廣瀬伸一, 水口雅
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋国際会議場(愛知県)
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] THE pathomechanisms of Dravet syndome:Lessons From patient-Derived Induced Pluripotent stem Cells(iPSCs)

    • Author(s)
      Hirose S
    • Organizer
      The 16th annual meeting of the infantile seizure society
    • Place of Presentation
      TURKEY
    • Year and Date
      2014-06-22 – 2014-06-27
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy,infantile convulsions with choleoathetosis syndrome, and benign convulsions with mild gastroenteritis

    • Author(s)
      Ishii A, Yasumoto S, Ihara Y, Inoue T, fujita T,Nakamura N, Ohfu M, Lee WT, Kaneko s, Hirose S.
    • Organizer
      2012Korea Epilepsy Congress
    • Place of Presentation
      Incheon,Korea
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] A recurrent KCNT1 mutation in two sporadic cases with malignat partial seizures in infancy

    • Author(s)
      Okumura A, Ishii A, Shioda M, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S,Yamamoto T.
    • Organizer
      The 16th Annual Meeting of The Infantile Seizure Society (ISES 2014)
    • Place of Presentation
      Turkey
    • Year and Date
      2014-06-22 – 2014-06-27
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy,infantile convulsions with choleoathetosis syndrom, and benign convulsions with mild gastroenteritis

    • Author(s)
      Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Lee WT, Kaneko S, Hirose S.
    • Organizer
      2012 Korea Epilepsy Congress
    • Place of Presentation
      Incheon, Korea
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] A Neonatal Case of Malignant Migrating Partial Seizures in Infancy

    • Author(s)
      Sato T, Watanabe Y, Watanabe K,Yamashita M, Hashimoto K, Dateki S, Shirakawa T, Nakashima Y, Ihara Y, Ishii A, Hirose S, Moriuchi H.
    • Organizer
      The 16th Annual Meeting of The Infantile Seizure Society
    • Place of Presentation
      Turkey
    • Year and Date
      2014-06-22 – 2014-06-25
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] Newborn screening for Fabry disease:Prevalence and genotypes from a pilot study in Japan

    • Author(s)
      Inoue T, Hattori K, Ihara K, Ishii A, Nakamura M, Hirose S.
    • Organizer
      The 2nd Asian Congress for Lysosomal Storage Disease Screening
    • Place of Presentation
      福岡
    • Year and Date
      2014-06-05 – 2014-06-06
    • Data Source
      KAKENHI-PROJECT-25670481
  • [Presentation] A Neonatal Case of Malignant Migrating Partial Seizures in infancy

    • Author(s)
      Sato T, Watanabe Y, Watanabe K, Yamashita M, Hashimoto K, Dateki S, Shirakawa T, Nakashima Y, Ihara Y, Ishii A, Hirose S, Moriuchi H
    • Organizer
      The 16th annual meeting of the infantile seizure society
    • Place of Presentation
      TURKEY
    • Year and Date
      2014-06-22 – 2014-06-27
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • [Presentation] Genetic analysis of Alternating Hemiplegia of Childhood

    • Author(s)
      Ishii A, Saito Y, Sasaki M, Hirose S.
    • Organizer
      10th European Congress of Epileptology
    • Place of Presentation
      London, UK
    • Data Source
      KAKENHI-PROJECT-23659529
  • [Presentation] genetic analysis of Alternating Hemiplegia of Childhood

    • Author(s)
      Ishii A, Saito Y, Sasaki M, Hirose S.
    • Organizer
      10th European congress of Epileptology
    • Place of Presentation
      London UK
    • Data Source
      KAKENHI-PROJECT-24249060
  • [Presentation] 重度後遺症を伴ったけいれん重積型急性脳症5例の脳症関連遺伝子の解析

    • Author(s)
      山中岳, 竹下美佳, 小穴信吾, 石田悠, 森地振一郎, 宮島佑, 齋藤真木子, 水口雅, 廣瀬伸一, 河島尚志
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      アクトシティ浜松(静岡県)
    • Year and Date
      2014-05-29 – 2014-05-31
    • Data Source
      KAKENHI-PROJECT-24390258
  • [Presentation] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

    • Author(s)
      Okumura A, Ishii A, Shioda M, Kidokoro H, Sakauchi, M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamaoto T.
    • Organizer
      The 16th annual meeting of the infantile seizure society
    • Place of Presentation
      TURKEY
    • Year and Date
      2014-06-22 – 2014-06-27
    • Data Source
      KAKENHI-PUBLICLY-25129708
  • []

  • []

  • []

  • 1.  KATSURABAYASHI Shutaro (50435145)
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  • 2.  SAITO Ryo (80122696)
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  • 5.  ARAKI Kimi (90211705)
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  • 6.  TAKANO Yukio (50113246)
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  • 7.  DESHIMARU Masanobu (70309889)
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  • 15.  YAMAKAWA Kazuhiro (30241235)
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  • 16.  SATOH Kei (20125438)
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  • 17.  WAKABAYASHI Koichi (50240768)
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  • 18.  荻原 郁夫 (30373286)
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  • 19.  SUZUKI Tosirou
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  • 20.  YASUI-FURUKORI Norio (20333734)
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  • 22.  KOJIMA Toshio (00311340)
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  • 23.  FUKUSAWA Masashi (10231557)
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  • 24.  NAKAGAWA Kazuko (20284747)
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  • 25.  TSUJI Shoji (70150612)
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  • 26.  KUWANO Ryozo (20111734)
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  • 27.  NAKAYAMA Tojo (40613302)
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  • 28.  KURE Shigeo (10205221)
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  • 29.  YAMAMOTO Toshiyuki (20252851)
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  • 30.  IKEHARA Yukio (70037612)
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  • 31.  MIZUGUCHI Masashi (20209753)
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  • 32.  TAKANASHI Jun-ichi (00302555)
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  • 33.  SAITOH Makiko (20225733)
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  • 34.  YAMANOUCHI Hideo (10250226)
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  • 35.  Kobayashi Shin (10397664)
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  • 36.  YASUDA Takashi (80270883)
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  • 37.  小林 圭子 (70108869)
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  • 38.  佐伯 武頼 (10056070)
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  • 39.  三浦 史仁 (50447348)
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  • 40.  石野 史敏 (60159754)
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  • 41.  石井 敦士 (90568825)
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  • 42.  田中 泰圭 (50714466)
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  • 43.  道具 伸也 (60399186)
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  • 44.  Koyama Susumu
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  • 45.  HIGURASHI Norimichi
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  • 46.  SHIRAISHI Hideaki
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  • 47.  MORI Masayuki
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  • 48.  MORISHITA Shinichi
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  • 49.  KUROKAWA Tatsuki
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  • 50.  SUZUKI Toshimitsu
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  • 52.  内田 琢
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  • 54.  齋藤 亮
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  • 55.  斎藤 真木子
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  • 56.  宮武 聡子
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  • 57.  森 泰生
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  • 58.  池田 啓子
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  • 59.  荒木 正健
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  • 61.  柴田 磨己
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  • 62.  安永 晋一郎
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  • 63.  白須 直人
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  • 64.  伊藤 雅之
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  • 65.  安田 浩樹
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  • 66.  松尾 健
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  • 67.  奥村 彰久
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  • 68.  倉橋 宏和
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  • 69.  松本 浩
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  • 70.  曽根 岳史
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  • 71.  滝田 順子
    # of Collaborated Projects: 0 results
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