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Kato Mitsuhiro  加藤 光広

… Alternative Names

KATO Mitsuhiro  加藤 光広

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Researcher Number 10292434
Other IDs
  • ORCIDhttps://orcid.org/0000-0003-1485-8553
Affiliation (Current) 2025: 昭和大学, 医学部, 教授
Affiliation (based on the past Project Information) *help 2018 – 2024: 昭和大学, 医学部, 教授
2017: 昭和大学, 医学部, 准教授
2016: 昭和大学, 医学部, 講師
2004 – 2014: 山形大学, 医学部, 講師
2013: 山形大学, 医学部小児科学講座, 講師 … More
2000: 山形大学, 医学部・小児科, 講師
2000: University Hospital, Yamagata University Lecturer, 医学部・附属病院, 講師
1999: 山形大学, 医学部, 助手
1999: 山形大学, 医学部・小児科, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Except Principal Investigator
Rehabilitation science/Welfare engineering / Pediatrics / Pediatrics
Keywords
Principal Investigator
てんかん / 遺伝子 / ウエスト症候群 / 大田原症候群 / 人工知能 / 次世代シーケンサー / 遺伝子解析 / ポリアラニン / ARX遺伝子 / 介在ニューロン … More / ロングリードシーケンス / 画像診断 / 脳形成異常 / 深層学習 / エクソーム解析 / RNA-Seq / RT-PCR / ゲノム / 小児神経 / SpliceAI / スプライス異常 / エクソーム / 診断法 / 生殖細胞 / 突然変異 / デジタルPCR / モザイク / 遺伝子変異 / de novo変異 / de novo / 遺伝相談 / デジタルPCR / モザイク変異 / mental retardation / X chromosome / polyalanine residues / ARX gene / West syndrome / 精神遅滞 / X染色体 / 全エクソーム解析 / イオンチャネル / SCN8A / SCN2A / KCNQ2 / ARX / 分子シャペロン / ポリアラニン病 / ARX 遺伝子 / 年齢依存性てんかん性脳症 / 小児神経学 / band heterotopio / 異所性灰白質 / band heterotopia / DCX遺伝子 / doublecortin / double cortex syndrome / migration disorder / 脳奇形 … More
Except Principal Investigator
リハビリテーション / SCN8A / 視覚評価 / 大脳性視覚障害 / visual evaluation / spatial frequency / observation / rehabilitation / residual vision / pupillary response / contrast sensitivity / cerebral visual impairment / 縮瞳 / 視察法 / 空間周波数 / 視察 / 残存視覚 / 瞳孔反応 / コントラスト感度 / sodium channel / myelin associated glycoprotein / connexin 32 / Po / peripheral myelin protein 22 / myelin / Charcot-Marie-Tooth disease / hereditary neuropathies / Po蛋白 / 膜電位依存性Naチャンネルαサブユニット / コネキシン32 / Peripheral Myelin Protein 22 / 膜電位依存性Naチャンネルαサブユニッ / ミエリン会合性糖蛋白 / コネキシン3 2 / PO蛋白 / Peripheral Myelin Protein22 / Charcot-Marie-Tooth病 / 小児科 / 先天奇形学 / 人類遺伝学 / 分子遺伝学 / 先天異常学 / 遺伝 / 視覚行動 / 非運動性 / 評価スケール / 視覚発達 / 評価尺度 / 尺度 / 視覚障害 / CVI / スケール / 重症心身障害 / Werdnig-Hoffmann / 系統的アプローチ / パソコン / コミュニケーション / 自発的活動 / 作業療法 / スイッチ活動 / 遠隔支援 / アンケート / Werdnig-Hoffman / 脊髄性筋萎縮症 Less
  • Research Projects

    (13 results)
  • Research Products

    (192 results)
  • Co-Researchers

    (41 People)
  •  深層学習モデルで解き明かす発達性てんかん性脳症と脳形成異常の遺伝素因と画像診断Principal Investigator

    • Principal Investigator
      加藤 光広
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Showa University
  •  Combining Artificial Intelligence and RNA-Seq to elucidate new etiologies of genetic neurological disorders in childhood.Principal Investigator

    • Principal Investigator
      Kato Mitsuhiro
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Showa University
  •  Development of presumptive diagnostic methods for germ line mosaic variants using low frequency mosaic variants detection technologiesPrincipal Investigator

    • Principal Investigator
      Kato Mitsuhiro
    • Project Period (FY)
      2016 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Showa University
  •  Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencerPrincipal Investigator

    • Principal Investigator
      KATO Mitsuhiro
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University
  •  Visual severity scale for patients with severe motor and intellectual disabilities and cerebral visual impairment: reliability and validity

    • Principal Investigator
      SAKAI Shinya
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Rehabilitation science/Welfare engineering
    • Research Institution
      Hokkaido University
  •  Identification of novel disease genes utilizing next generation sequencer

    • Principal Investigator
      MIYAKE Noriko
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Yokohama City University
  •  Molecular mechanism of age-dependent epileptic encephalopathy and the development of its molecular chaperone treatmentPrincipal Investigator

    • Principal Investigator
      KATO Mitsuhiro
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University
  •  Remote support aimed at the acquisition of switch activities for children with spinal muscular atrophy type I

    • Principal Investigator
      SAKAI Shinya
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Rehabilitation science/Welfare engineering
    • Research Institution
      Hokkaido University
  •  Pathological role of interneurons in pediatric brain disordersPrincipal Investigator

    • Principal Investigator
      KATOH Mitsuhiro
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University
  •  The validity and reliability of pupillary responses to gratings for children with cerebral visual impairment

    • Principal Investigator
      SAKAI Shinya
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Rehabilitation science/Welfare engineering
    • Research Institution
      Hokkaido University
  •  To identify responsible genes and survey the custom-made therapy for West syndromePrincipal Investigator

    • Principal Investigator
      KATO Mitsuhiro
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University
  •  脳神経細胞の移動異常におけるdoublecortin遺伝子の解析Principal Investigator

    • Principal Investigator
      加藤 光広
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University
  •  Molecular Pathology of Hereditary Neuropathy

    • Principal Investigator
      HAYASAKA Kiyoshi
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (B).
    • Research Field
      Pediatrics
    • Research Institution
      Yamagata University

All 2024 2023 2022 2021 2020 2019 2018 2017 2014 2013 2012 2011 2010 2009 2008 2007 2005 Other

All Journal Article Presentation Book Other

  • [Book] The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children. 2nd ed2019

    • Author(s)
      Kato Mitsuhiro(分担執筆)
    • Total Pages
      1010
    • Publisher
      Cambridge University Press
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Book] Jasper's Basic Mechanisms of the Epilepsies.2012

    • Author(s)
      Saitsu H, Kato M, Matsumoto N
    • Total Pages
      11
    • Publisher
      Oxford
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Book] 神経系の発生,中枢神経系奇形, migrationの異常.有馬正高監修「小児神経学」2章2008

    • Author(s)
      加藤光広
    • Publisher
      神経形成異常診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] Genetic etiology of age-dependent epileptic encephalopathies in infancy : longer polyalanine expansion in ARX causes earlier onset and more severe phenotype. Biology of Seizure Susceptibility in Developing Brain. Progress in Epileptic Disorders Series, Vol.62008

    • Author(s)
      Kato M, et.al.
    • Publisher
      John Libbey Eurotext, Montrouge (Paris), France
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] 脳形成障害.五十嵐隆総編集岡明専門編集「小児科臨床ピクシス(3)小児てんかんの最新医療」2章てんかんの原因2008

    • Author(s)
      加藤光広
    • Publisher
      中山書店 東京
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] 小児科臨床ピクシス(3)小児てんかんの最新医療2章てんかんの原因脳形成障害分担執筆2008

    • Author(s)
      加藤光広
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] 小児神経学2章. 神経形成異常神経系の発生, 中枢神経系奇形, migrationの異常分担執筆2008

    • Author(s)
      加藤光広
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] Genetic etiology of age-dependent epileptic encephalopathies in infancy : longer polyalanine expansion in ARX causes earlier onset and more severe phenotype. Biology of Seizure Susceptibility in Developing Brain. Progress in Epileptic Disorders Series2008

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
    • Publisher
      Editions John Libbey Eurotext, Montrouge (Paris), France
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] 中枢神経系の発生異常の遺伝学的背景. 『小児神経学の進歩』第36集2007

    • Author(s)
      加藤光広
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Book] 脳回形成異常(無脳回, 厚脳回, 多小脳回, 滑脳症).『小児中枢神経疾患の画像診断2008』2007

    • Author(s)
      加藤光広
    • Publisher
      小児内科 東京医学社
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome2024

    • Author(s)
      Samejima M, Nakashima M, Shibasaki J, ... , Kato M, et al.
    • Journal Title

      Brain and Development

      Volume: 46 Issue: 3 Pages: 154-159

    • DOI

      10.1016/j.braindev.2023.11.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
  • [Journal Article] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling2024

    • Author(s)
      Koshimizu E., Kato M., Misawa K., Uchiyama Y., Tsuchida N., Hamanaka K., Fujita A., Mizuguchi T., Miyatake S. and Matsumoto N.
    • Journal Title

      J Hum Genet

      Volume: 69 Issue: 3-4 Pages: 153-157

    • DOI

      10.1038/s10038-023-01217-2

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
  • [Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions2023

    • Author(s)
      Atsushi Fujita et al.
    • Journal Title

      Acta Neuropathologica Communications

      Volume: 11 Issue: 1 Pages: 33-33

    • DOI

      10.1186/s40478-023-01532-x

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K15901, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-20K08236
  • [Journal Article] Two novel cases of biallelic SMPD4 variants with brain structural abnormalities2023

    • Author(s)
      Aoki S, Watanabe K, Kato M, et al.
    • Journal Title

      neurogenetics

      Volume: 25 Issue: 1 Pages: 3-11

    • DOI

      10.1007/s10048-023-00737-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
  • [Journal Article] Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome2023

    • Author(s)
      Miyamoto Sachiko、Nakamura Kazuyuki、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo
    • Journal Title

      Annals of Human Genetics

      Volume: - Issue: 4 Pages: 196-202

    • DOI

      10.1111/ahg.12507

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-23K27566
  • [Journal Article] A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome2023

    • Author(s)
      Hiraide Takuya、Akita Tenpei、Uematsu Kenji、Miyamoto Sachiko、Nakashima Mitsuko、Sasaki Masayuki、Fukuda Atsuo、Kato Mitsuhiro、Saitsu Hirotomo
    • Journal Title

      Journal of Human Genetics

      Volume: 68 Issue: 1 Pages: 25-31

    • DOI

      10.1038/s10038-022-01090-5

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06766, KAKENHI-PUBLICLY-21H05687, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661
  • [Journal Article] Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration2023

    • Author(s)
      Vetro Annalisa et al
    • Journal Title

      The American Journal of Human Genetics

      Volume: 110 Issue: 8 Pages: 1356-1376

    • DOI

      10.1016/j.ajhg.2023.06.008

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K15619, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K08236
  • [Journal Article] Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy2022

    • Author(s)
      Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K.
    • Journal Title

      Epileptic Disorder

      Volume: 24 Issue: 4 Pages: 726-728

    • DOI

      10.1684/epd.2022.1441

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-20K08236
  • [Journal Article] Monogenic causes of pigmentary mosaicism2022

    • Author(s)
      Saida Ken、Chong Pin Fee、Yamaguchi Asuka、...Mitsuhiro Kato, et al.
    • Journal Title

      Human Genetics

      Volume: 141 Issue: 11 Pages: 1771-1784

    • DOI

      10.1007/s00439-022-02437-w

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K24308
  • [Journal Article] A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode2022

    • Author(s)
      Marafi Dana、Kozar Nina、Duan Ruizhi, ... Mitsuhiro Kato, et al.
    • Journal Title

      The American Journal of Human Genetics

      Volume: 109 Issue: 9 Pages: 1713-1723

    • DOI

      10.1016/j.ajhg.2022.07.006

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K07907
  • [Journal Article] Efficacy of ethosuximide on atonic seizures with <i>KCNB1</i> mutation2022

    • Author(s)
      Hoshino Hiroki、Miya Fuyuki、Kato Mitsuhiro、Kanemura Hideaki
    • Journal Title

      Pediatrics International

      Volume: 64 Issue: 1

    • DOI

      10.1111/ped.14871

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Journal Article] Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis2022

    • Author(s)
      Guerrini Renzo、Mei Davide、Kerti-Szigeti Katalin、... Mitsuhiro Kato, et al.
    • Journal Title

      Brain

      Volume: 145 Issue: 8 Pages: 2687-2703

    • DOI

      10.1093/brain/awac145

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Journal Article] Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation2022

    • Author(s)
      Matsushita Hiroko Baber、Hiraide Takuya、Hayakawa Katsumi、Okano Sozo、Nakashima Mitsuko、Saitsu Hirotomo、Kato Mitsuhiro
    • Journal Title

      Brain and Development

      Volume: 44 Issue: 2 Pages: 161-165

    • DOI

      10.1016/j.braindev.2021.10.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
  • [Journal Article] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant2022

    • Author(s)
      Hamanaka Kohei、Miyoshi Keita、Sun Jia-Hui、Hamada Keisuke、Komatsubara Takao、Saida Ken、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Mizuguchi Takeshi、Gerard Benedicte、Bayat Allan、Rinaldi Berardo、Kato Mitsuhiro、Tohyama Jun、Ogata Kazuhiro、Shi Yun Stone、Saito Kuniaki、Miyatake Satoko、Matsumoto Naomichi
    • Journal Title

      Human Genetics

      Volume: 141 Issue: 2 Pages: 283-293

    • DOI

      10.1007/s00439-021-02416-7

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K17936
  • [Journal Article] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.2022

    • Author(s)
      Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N.
    • Journal Title

      Genome Med

      Volume: 14 Issue: 1 Pages: 40-40

    • DOI

      10.1186/s13073-022-01042-w

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PLANNED-20H05777
  • [Journal Article] Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report2022

    • Author(s)
      Kobayashi Hikaru、Matsushige Takeshi、Hoshide Madoka、Hoshide M, Hidaka I, Ichiyama T, Kato M. et al.
    • Journal Title

      Seizure

      Volume: 101 Pages: 8-10

    • DOI

      10.1016/j.seizure.2022.06.019

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Journal Article] A New Case With Cortical Malformation Caused by Biallelic Variants in <i>LAMC3</i>2022

    • Author(s)
      Abe Kazuo、Ando Kumiko、Kato Mitsuhiro、Saitsu Hirotomo、Nakashima Mitsuko、Aoki Shintaro、Kimura Takashi
    • Journal Title

      Neurology Genetics

      Volume: 8 Issue: 3

    • DOI

      10.1212/nxg.0000000000000680

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
  • [Journal Article] Interleukin-1β in peripheral monocytes is associated with seizure frequency in pediatric drug-resistant epilepsy.2021

    • Author(s)
      Yamanaka G, Takamatsu T, Morichi S, Yamazaki T, Mizoguchi I, Ohno K, Watanabe Y, Ishida Y, Oana S, Suzuki S, Kashiwagi Y, Takata F, Sakuma H, Yoshimoto T, Kato M, Kawashima H
    • Journal Title

      J Neuroimmunol.

      Volume: 352 Pages: 577475-577475

    • DOI

      10.1016/j.jneuroim.2021.577475

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K06570, KAKENHI-PROJECT-19K08311, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K17909, KAKENHI-PROJECT-18K11658, KAKENHI-PROJECT-21K12256
  • [Journal Article] Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants2021

    • Author(s)
      Kobayashi Y
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 4 Pages: 505-514

    • DOI

      10.1016/j.braindev.2020.12.006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-18K07865, KAKENHI-PROJECT-19K08237
  • [Journal Article] Epileptic encephalopathy patients with <i>SCN2A</i> variant initiated by neonatal seizure2021

    • Author(s)
      Morichi Shinichiro、Ishida Yu、Yamanaka Gaku、Kato Mitsuhiro、Kawashima Hisashi
    • Journal Title

      Pediatrics International

      Volume: 63 Issue: 8 Pages: 971-972

    • DOI

      10.1111/ped.14509

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K17909
  • [Journal Article] Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 32021

    • Author(s)
      Hatano Maiko、Fukushima Hiroko、Ohto Tatsuyuki、Ueno Yuichi、Saeki Saki、Enokizono Takashi、Tanaka Ryuta、Tanaka Mai、Imagawa Kazuo、Kanai Yu、Kato Mitsuhiro、Shiraku Hiroshi、Suzuki Hisato、Uehara Tomoko、Takenouchi Toshiki、Kosaki Kenjiro、Takada Hidetoshi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 185 Issue: 4 Pages: 1113-1119

    • DOI

      10.1002/ajmg.a.62084

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-20K08236
  • [Journal Article] Clinical variations of epileptic syndrome associated with PACS2 variant2021

    • Author(s)
      Mizuno T, Miyata R, Hojo A, Tamura Y, Nakashima M, Mizuguchi T, Matsumoto N and Kato M
    • Journal Title

      Brain Dev

      Volume: 43 Issue: 2 Pages: 343-347

    • DOI

      10.1016/j.braindev.2020.10.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
  • [Journal Article] Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies2021

    • Author(s)
      Miyamoto Sachiko、Kato Mitsuhiro、et al and Saitsu Hirotomo
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 11 Pages: 1061-1068

    • DOI

      10.1038/s10038-021-00932-y

    • NAID

      120007167202

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
  • [Journal Article] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction2021

    • Author(s)
      den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, HB, Itai T, Jackson A, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Kleefstra T, Reymond A, Fisher SE, Vissers LELM et al.
    • Journal Title

      Am J Hum Genet.

      Volume: 108 Issue: 2 Pages: 346-356

    • DOI

      10.1016/j.ajhg.2021.01.007

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
  • [Journal Article] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice2021

    • Author(s)
      Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu H
    • Journal Title

      Nat Commun

      Volume: 12 Issue: 1 Pages: 2107-2107

    • DOI

      10.1038/s41467-021-22389-5

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-19H01091, KAKENHI-PUBLICLY-21H05687, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21H02661, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
  • [Journal Article] Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.2021

    • Author(s)
      Arisaka A, Nakashima M, Kumada S, Inoue K, Nishida H, Mashimo H, Kashii H, Kato M, Maruyama K, Okumura A, Saitsu H, Matsumoto N, Fukuda M.
    • Journal Title

      Epilepsy Behav Rep.

      Volume: 15 Pages: 100417-100417

    • DOI

      10.1016/j.ebr.2020.100417

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08223, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
  • [Journal Article] Complete sequencing of expanded SAMD12 repeats by long-read sequencing with Cas9-mediated enrichment.2021

    • Author(s)
      Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tusburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N.
    • Journal Title

      Brain

      Volume: 144 Issue: 4 Pages: 1103-1117

    • DOI

      10.1093/brain/awab021

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K07970, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-21H02855, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K07298, KAKENHI-PROJECT-21K15704
  • [Journal Article] A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies2021

    • Author(s)
      Miyamoto Sachiko、Kato Mitsuhiro、Sugiyama Kenji、Horiguchi Ryo、Nakashima Mitsuko、Aoto Kazushi、Mutoh Hiroki、Saitsu Hirotomo
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 12 Pages: 1189-1192

    • DOI

      10.1038/s10038-021-00953-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-20K07423, KAKENHI-PROJECT-20K08236
  • [Journal Article] Two cases of DYNC1H1 mutations with intractable epilepsy2021

    • Author(s)
      Matsumoto Ayumi、Kojima Karin、Miya Fuyuki、Miyauchi Akihiko、Watanabe Kazuhisa、Iwamoto Sadahiko、Kawai Kensuke、Kato Mitsuhiro、Takahashi Yukitoshi、Yamagata Takanori
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 8 Pages: 857-862

    • DOI

      10.1016/j.braindev.2021.05.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08914
  • [Journal Article] Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review2021

    • Author(s)
      Watanabe Kazuki、Nakashima Mitsuko、Kumada Satoko、Mashimo Hideaki、Enokizono Mikako、Yamada Keitaro、Kato Mitsuhiro、Saitsu Hirotomo
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 12 Pages: 1193-1197

    • DOI

      10.1038/s10038-021-00956-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K08236
  • [Journal Article] Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy2021

    • Author(s)
      Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N
    • Journal Title

      The American Journal of Human Genetics

      Volume: 108 Issue: 4 Pages: 739-748

    • DOI

      10.1016/j.ajhg.2021.02.015

    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Journal Article] De novo ATP1A3 variants cause polymicrogyria2021

    • Author(s)
      Miyatake Satoko、Kato Mitsuhiro、Kumamoto Takuma、Hirose Tomonori、他
    • Journal Title

      Science Advances

      Volume: 7 Issue: 13 Pages: 2368-2368

    • DOI

      10.1126/sciadv.abd2368

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K06893, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K22601, KAKENHI-PROJECT-18K15677, KAKENHI-PUBLICLY-19H04795, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03438, KAKENHI-ORGANIZER-21H05158, KAKENHI-PLANNED-21H05159, KAKENHI-PROJECT-19H03228, KAKENHI-PROJECT-20H03270, KAKENHI-PROJECT-21H02405, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-21K19356, KAKENHI-PROJECT-21K19413
  • [Journal Article] Expanding the KIF4A‐associated phenotype2021

    • Author(s)
      Kalantari Silvia、Carlston Colleen、Alsaleh Norah、Kato Mitsuhiro、Matsumoto Naomichi、Miyatake Satoko、Yamamoto Tatsuya、Dobyns William B.、Filges Isabel
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 185 Issue: 12 Pages: 3728-3739

    • DOI

      10.1002/ajmg.a.62443

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08236
  • [Journal Article] Clinical and genetic characteristics of patients with Doose syndrome2020

    • Author(s)
      Hinokuma N, Nakashima M, Asai H, Nakamura K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M et al.
    • Journal Title

      Epilepsia Open

      Volume: 5 Issue: 3 Pages: 442-450

    • DOI

      10.1002/epi4.12417

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
  • [Journal Article] Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant2020

    • Author(s)
      Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T and Matsumoto N
    • Journal Title

      Neurol Genet

      Volume: 6 Issue: 6

    • DOI

      10.1212/nxg.0000000000000527

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236
  • [Journal Article] Phenotype?genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms2020

    • Author(s)
      Endo Wakaba, et al., Matsumoto Naomichi, Haginoya Kazuhiro
    • Journal Title

      Brain and Development

      Volume: 42 Issue: 2 Pages: 199-204

    • DOI

      10.1016/j.braindev.2019.10.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-18K19305
  • [Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses2020

    • Author(s)
      Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
    • Journal Title

      Human Mutation

      Volume: 42 Issue: 1 Pages: 50-65

    • DOI

      10.1002/humu.24129

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865, KAKENHI-PROJECT-18K07865
  • [Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2020

    • Author(s)
      Miyake Noriko et al., Matsumoto Naomichi
    • Journal Title

      The American Journal of Human Genetics

      Volume: 106 Issue: 1 Pages: 13-25

    • DOI

      10.1016/j.ajhg.2019.11.011

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-19H03774, KAKENHI-PROJECT-18H02378, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K22401
  • [Journal Article] De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms2020

    • Author(s)
      Nakashima Mitsuko、Kato Mitsuhiro、Matsukura Masaru、Kira Ryutaro、Ngu Lock-Hock、Lichtenbelt Klaske D.、van Gassen Koen L. I.、Mitsuhashi Satomi、Saitsu Hirotomo、Matsumoto Naomichi
    • Journal Title

      Journal of Human Genetics

      Volume: 65 Issue: 9 Pages: 727-734

    • DOI

      10.1038/s10038-020-0758-2

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20H03641
  • [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019

    • Author(s)
      Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
    • Journal Title

      Neurology

      Volume: 93 Issue: 3

    • DOI

      10.1212/wnl.0000000000007774

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
  • [Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report2019

    • Author(s)
      Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
    • Journal Title

      BMC Neurology

      Volume: 19 Issue: 1 Pages: 253-253

    • DOI

      10.1186/s12883-019-1489-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080
  • [Journal Article] A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly2019

    • Author(s)
      Hiraide Takuya、Kaba Yasui Hikari、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Issue: 11 Pages: 1127-1132

    • DOI

      10.1038/s10038-019-0656-7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Journal Article] De novo PHACTR1 mutations in West syndrome and their pathophysiological effects2018

    • Author(s)
      Hamada Nanako、Ogaya Shunsuke、Nakashima Mitsuko、Nishijo Takuma、Sugawara Yuji、Iwamoto Ikuko、Ito Hidenori、Maki Yuki、Shirai Kentaro、Baba Shimpei、Maruyama Koichi、Saitsu Hirotomo、Kato Mitsuhiro、Matsumoto Naomichi、Momiyama Toshihiko、Nagata Koh-ichi
    • Journal Title

      Brain

      Volume: 141 Pages: 3098-3114

    • DOI

      10.1093/brain/awy246

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K08264, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K07063, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
  • [Journal Article] De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders2018

    • Author(s)
      Akita Tenpei、Aoto Kazushi、Kato Mitsuhiro、Shiina Masaaki、Mutoh Hiroki、Nakashima Mitsuko、Kuki Ichiro、Okazaki Shin、Magara Shinichi、Shiihara Takashi、Yokochi Kenji、Aiba Kaori、Tohyama Jun、Ohba Chihiro、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Fukuda Atsuo、Matsumoto Naomichi、Saitsu Hirotomo
    • Journal Title

      Annals of Clinical and Translational Neurology

      Volume: 5 Issue: 3 Pages: 280-296

    • DOI

      10.1002/acn3.528

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17K08534, KAKENHI-PROJECT-17K19682, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05872, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H04025, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K00918, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-16H03293
  • [Journal Article] A recurrent homozygous NHLRC1 variant in siblings with Lafora disease2018

    • Author(s)
      Araya Nami、Takahashi Yukitoshi、Shimono Masayuki、Fukuda Tomofumi、Kato Mitsuhiro、Nakashima Mitsuko、Matsumoto Naomichi、Saitsu Hirotomo
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 6-9

    • DOI

      10.1038/s41439-018-0015-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18K07865
  • [Journal Article] Detection of copy number variations in epilepsy using exome data2018

    • Author(s)
      Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Mizuguchi T. et al.
    • Journal Title

      Clinical Genetics

      Volume: 93 Issue: 3 Pages: 577-587

    • DOI

      10.1111/cge.13144

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09975
  • [Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism2018

    • Author(s)
      Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
    • Journal Title

      Human Genetics

      Volume: 137 Issue: 1 Pages: 95-104

    • DOI

      10.1007/s00439-017-1863-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204
  • [Journal Article] De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy2018

    • Author(s)
      Fassio Anna、Esposito Alessandro、Kato Mitsuhiro、Saitsu Hirotomo、et al.
    • Journal Title

      Brain

      Volume: 141 Issue: 6 Pages: 1703-1718

    • DOI

      10.1093/brain/awy092

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160
  • [Journal Article] Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy2017

    • Author(s)
      Syrbe S、Harms FL、Parrini E、Montomoli M、Mutze U、Helbig KL、Polster T、Albrecht B、Bernbeck U、van Binsbergen E、Biskup S、Burglen L、Denecke J、Heron B、Heyne H O、Hoffmann GF、Hornemann F、Matsushige T、Matsuura R、Kato M、et al.
    • Journal Title

      Brain

      Volume: 140 Issue: 9 Pages: 2322-2336

    • DOI

      10.1093/brain/awx195

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160
  • [Journal Article] Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy2017

    • Author(s)
      Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N
    • Journal Title

      Clinical Genetics

      Volume: 93 Issue: 2 Pages: 266-274

    • DOI

      10.1111/cge.13061

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09975
  • [Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations2014

    • Author(s)
      Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H:
    • Journal Title

      Epilepsia

      Volume: 55 Issue: 7 Pages: 994-1000

    • DOI

      10.1111/epi.12668

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22129005, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] 重症心身障害児(者)を対象とした大脳性視覚障害重症度評価スケールの開発2014

    • Author(s)
      池田 歩,境 信哉,星 有理香,桜庭 聡,吉田雅紀,平元 東,加藤光広,八田達夫,平山和美
    • Journal Title

      日本重症心身障害学会誌

      Volume: 39

    • NAID

      130008000100

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23500578
  • [Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.2013

    • Author(s)
      Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
    • Journal Title

      Neurology

      Volume: 81 Issue: 11 Pages: 992-998

    • DOI

      10.1212/wnl.0b013e3182a43e57

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly2013

    • Author(s)
      Yoneda Y, Haginoya K,…..*Saitsu H
    • Journal Title

      Ann Neurol

      Volume: 73(1):48-57 Issue: 1 Pages: 48-57

    • DOI

      10.1002/ana.23736

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591790, KAKENHI-PROJECT-24790893, KAKENHI-PROJECT-25860877
  • [Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013

    • Author(s)
      Kato M, …Saitsu H.
    • Journal Title

      Epilepsia

      Volume: in press Issue: 7 Pages: 1282-7

    • DOI

      10.1111/epi.12200

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23390275, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24791060, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013

    • Author(s)
      Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
    • Journal Title

      Hum Mutat

      Volume: 34 Issue: 12 Pages: 1708-1714

    • DOI

      10.1002/humu.22446

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390081, KAKENHI-PROJECT-23590849, KAKENHI-PROJECT-23591497, KAKENHI-PUBLICLY-24110501, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013

    • Author(s)
      Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
    • Journal Title

      Epilepsia

      Volume: 54 Issue: 7 Pages: 1262-1269

    • DOI

      10.1111/epi.12203

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Clinical Genetics

      Volume: 81(4):399-402 Issue: 4 Pages: 86-90

    • DOI

      10.1111/j.1399-0004.2011.01733.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
  • [Journal Article] The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.2012

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

      Am J Med Genet

      Volume: 158A Issue: 6 Pages: 1292-1303

    • DOI

      10.1002/ajmg.a.35321

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390272, KAKENHI-PROJECT-23390325, KAKENHI-PROJECT-23650406, KAKENHI-PROJECT-23659519, KAKENHI-PROJECT-23791155, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24650238
  • [Journal Article] Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome.2012

    • Author(s)
      Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
    • Journal Title

      Ann Neurol

      Volume: 72(2): 298-300

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23689052
  • [Journal Article] Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.2012

    • Author(s)
      Nakamura K, Kato M, Sasaki A, Shiihara T, Hayasaka K
    • Journal Title

      Pediatr Int

      Volume: 54 Issue: 5 Pages: 709-711

    • DOI

      10.1111/j.1442-200x.2012.03594.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Epilepsia

      Volume: 53(8):1441-1449 Issue: 8 Pages: 1441-1449

    • DOI

      10.1111/j.1528-1167.2012.03548.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
  • [Journal Article] Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification2012

    • Author(s)
      Nakamura K, Hayasaka K, et al
    • Journal Title

      J Child Neurol

      Volume: 27 Issue: 2 Pages: 218-221

    • DOI

      10.1177/0883073811416239

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-24591500
  • [Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Ann Neurol

      Volume: 72(2):298-300 Issue: 2 Pages: 298-300

    • DOI

      10.1002/ana.23620

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
  • [Journal Article] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly2011

    • Author(s)
      Yoneda Y, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 90 Issue: 1 Pages: 86-90

    • DOI

      10.1016/j.ajhg.2011.11.016

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001
  • [Journal Article] De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy2011

    • Author(s)
      Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matsumoto N
    • Journal Title

      Am J Med Genet A

      Volume: 155A(11) Issue: 11 Pages: 2879-2884

    • DOI

      10.1002/ajmg.a.34289

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011
  • [Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011

    • Author(s)
      Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
    • Journal Title

      Am J Med Genet A

      Volume: (in press) Issue: 1 Pages: 2879-84

    • DOI

      10.1002/ajmg.a.34363

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-22689011, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-24591500
  • [Journal Article] Going BAC or oligo microarray to the well : a commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011

    • Author(s)
      Kato M
    • Journal Title

      J Hum Genet

      Volume: 56(2) Pages: 104-105

    • NAID

      10030657684

    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, et al
    • Journal Title

      Am J Hum Genet

      Volume: 89 Issue: 2 Pages: 320-327

    • DOI

      10.1016/j.ajhg.2011.07.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591021, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23689052
  • [Journal Article] Going BAC or oligo microarray to the well : a commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011

    • Author(s)
      Kato M, et al.
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 104-105

    • NAID

      10030657684

    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] Frameshift mutations of the ARX gene in familial Ohtahara syndrome.2010

    • Author(s)
      Kato M, et al.
    • Journal Title

      Epilepsia

      Volume: 51 Pages: 1679-1684

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.2010

    • Author(s)
      Saitsu H, Kato M, et al.(co-first author)
    • Journal Title

      Epilepsia

      Volume: 51 Pages: 2397-2405

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] Frameshift mutations of the ARX gene in familial Ohtahara syndrome2010

    • Author(s)
      Kato M, Hayasaka K, 他3名
    • Journal Title

      Epilepsia

      Volume: 51 Issue: 9 Pages: 1679-84

    • DOI

      10.1111/j.1528-1167.2010.02559.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591312
  • [Journal Article] Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene2010

    • Author(s)
      Kanazawa K, Kumada S, Kato M, Saitsu H, Kurihara E, Matsumoto N
    • Journal Title

      Mov Disord

      Volume: 25(13) Pages: 2265-2267

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] Two female siblings with West syndrome : Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression2010

    • Author(s)
      Caglayan AO, Gumus H, Kato M
    • Journal Title

      J Pediatr Neurosci

      Volume: 5(2) Pages: 147-149

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] 脳形成障害・てんかんのトピックスー年齢依存性てんかん性脳症と介在ニューロン病-.2010

    • Author(s)
      加藤光広
    • Journal Title

      脳と発達

      Volume: 42 Pages: 333-338

    • NAID

      10027697300

    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay2010

    • Author(s)
      Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato
    • Journal Title

      Am J Hum Genet

      Volume: 86(6) Pages: 881-891

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG)2009

    • Author(s)
      Miyata R, Hayashi M, Miyai K, Akashi T, Kato M, Kohyama J
    • Journal Title

      Brain Dev

      Volume: 31(6) Pages: 456-460

    • NAID

      10025580382

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] 神経細胞異動異常症.脳・神経系の画像診断 特集脳・神経系の画像診断2009

    • Author(s)
      加藤光広
    • Journal Title

      小児科診療

      Volume: 72 Pages: 467-472

    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] 大田原症候群.小児疾患における臨床遺伝学の進歩各論I2009

    • Author(s)
      加藤光広
    • Journal Title

      日本人が発見に関わった疾患遺伝子小児科

      Volume: Vol.50No.7 Pages: 894-898

    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] 大田原症候群.小児疾患における臨床遺伝学の進歩 各論 I.日本人が発見に関わった疾患遺伝子2009

    • Author(s)
      加藤光広
    • Journal Title

      小児科

      Volume: 50 Pages: 894-898

    • Data Source
      KAKENHI-PROJECT-21591312
  • [Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy2008

    • Author(s)
      Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
    • Journal Title

      Nat Genet 40

      Pages: 782-788

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter2008

    • Author(s)
      Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
    • Journal Title

      Brain Dev 30

      Pages: 349-355

    • NAID

      10025576951

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] Two new cases of pure 1q terminal deletion presenting with brain malformations2008

    • Author(s)
      Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N
    • Journal Title

      Am J Med Genet A 146

      Pages: 1241-1247

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta 22007

    • Author(s)
      Shimokaze T, Kato M, Yoshimura Y, Takahashi Y, Hayasaka K
    • Journal Title

      Brain Dev 29

      Pages: 224-226

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus2007

    • Author(s)
      Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB
    • Journal Title

      Neurology 69

      Pages: 427-33

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene2007

    • Author(s)
      Honda S, Hayashi S, Kato M, Niida Y, Hayasaka K, Okuyama T, Imoto I, Mizutani S, Inazawa J.
    • Journal Title

      Am J Med Genet Part A 143A

      Pages: 687-693

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody2007

    • Author(s)
      Shiihara T, Kato M, Konno A, Takahashi Y, Hayasaka K.
    • Journal Title

      Brain Dev 29

      Pages: 254-256

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)2007

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.
    • Journal Title

      Am J Hum Genet 81

      Pages: 361-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] 神経細胞移動障害の分子機構2007

    • Author(s)
      加藤光広
    • Journal Title

      日本小児科学会雑誌 111(11)

      Pages: 1361-1374

    • NAID

      10020094372

    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).2007

    • Author(s)
      Kato M, et. al.
    • Journal Title

      Am J Hum Genet 81

      Pages: 361-366

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Journal Article] X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy : proposal for a new teen, "interneuronopathy"2005

    • Author(s)
      Kato M
    • Journal Title

      J Child Neurol 20

      Pages: 392-397

    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] Costello syndrome showing moyamoya-like vasculopathy2005

    • Author(s)
      Shiihara T, Kato M, et al.
    • Journal Title

      Pediatr Neurol 32

      Pages: 361-363

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy : proposal for a new term, "interneuronopathy"2005

    • Author(s)
      Kato M, Dobyns WB
    • Journal Title

      Child Neurology 20

      Pages: 392-397

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] Clinically mild encephalitis/encephalopathy with a reversible splenial lesion2005

    • Author(s)
      Shiihara T, Kato M, Hayasaka K
    • Journal Title

      Neurology 64

      Pages: 1487-1487

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy : proposal for a new term,"interneuronopathy"2005

    • Author(s)
      Kato M, Dobyns WB
    • Journal Title

      J Child Neurol 20

      Pages: 392-397

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] 重症心身障害児(者)を対象とした大脳性視覚障害重症度評価スケールの開発

    • Author(s)
      池田歩, 境信哉, 星有理香, 桜庭聡, 吉田雅紀, 平元東, 加藤光広, 八田達夫, 平山和美
    • Journal Title

      日本重症心身障害学会誌

      Volume: (印刷中)

    • NAID

      130008000100

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23500578
  • [Journal Article] A new paradigm for West syndrome based on molecular and cell biology.

    • Author(s)
      Kato M
    • Journal Title

      Epilepsy Res (in press)

    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] A new paradigm for West syndrome based on molecular and cell biology.

    • Author(s)
      Kato M
    • Journal Title

      Epilepsy Research (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591007
  • [Journal Article] A new paradigm for West syndrome based on molecular and cell biology.

    • Author(s)
      Kato M
    • Journal Title

      Epilepsy Research in press

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16591007
  • [Presentation] Identification of a novel deep intronic DDC variant in patients with aromatic l-amino acid decarboxylase deficiency.2023

    • Author(s)
      E Koshimizu, S Miyatake, K Misawa, Y Uchiyama, N Tsuchida, K Hamanaka, A Fujita, T Mizuguchi, M Kato, N Matsumoto
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] A reverse genetics and genomics approach to gene paralog function and disease: myokymia and the juxtaparanode2023

    • Author(s)
      Dana Marafi, Nina Kozar, Ruizhi Duan,... Mitsuhiro Kato, et al.
    • Organizer
      2022 American Society of Human Genetics Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] Epilepsy genetics in the next-generation sequencing era.2023

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      Korean Child Neurology Society 30th Anniversary International Symposium
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] Rare epileptic diseases2023

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      14th Asian & Oceanian Epilepsy Congress. Satellite Symposium.
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome2023

    • Author(s)
      S Miyamoto, K Nakamura, M Kato, M Nakashima, H Saitsu
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] Genetics in Brain malformation and Epilepsy2020

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      Future Leaders in Child Neurology Association (FLICNA): Live talk on the Web
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] てんかん診療における遺伝子検査の重要性と課題2020

    • Author(s)
      加藤光広
    • Organizer
      第62回日本小児神経学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] Genetics of neonatal-onset epileptic encephalopathies:A tribute to Prof. Ohtahara2020

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      The 21st Annual Meeting of the Infantile Seizure Society (ISS): International Symposium on the Pathophysiology of Developmental and Epileptic Encephalopathy (ISDEE2020) Web
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08236
  • [Presentation] STXBP1 Encephalopathy2019

    • Author(s)
      Kato Mitsuhiro
    • Organizer
      3rd Azalea Festival symposium in Pediatric Neurology
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] Genetic role in infantile spasms2019

    • Author(s)
      Kato Mitsuhiro
    • Organizer
      3rd Azalea Festival symposium in Pediatric Neurology
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] Epileptic spasms in five children carrying WDR45 mutations2018

    • Author(s)
      Taikan Oboshi, Yukitoshi Takahashi, Asako Horino, Yuiti Kimizu, Shinsaku Yoshitomi, Tokito Ymaguchi, Hiroko Ikeda, Hidenobu Otani, Katumi Imai, Hideo Shigematsu, Yushi Inoue, Mitsuhiro Kato
    • Organizer
      19th International Symposium on Severe Infantile Epilepsy Treatment
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] HECW2 mutation causes periodic attacks of paralysis, intellectual disability and hypotonia2018

    • Author(s)
      Kazuyuki Nakamura, Takahiro Abiko, Takashi Kanbayashi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
    • Organizer
      15th International Child Neurology Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] De novo variants affecting autoinhibition of Calcium/calmodulin-dependent protein kinase II, cause neurodevelopmental disorders2018

    • Author(s)
      Hirotomo Saitsu, Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto
    • Organizer
      American Society of Human Genetics
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] Biallelic variants in CNPY3 cause West syndrome with hippocampal malrotation and characteristic fast waves2018

    • Author(s)
      Mitsuhiro Kato, Hiroki Mutoh, Tenpei Akita, Takuma Shibata, Hiroyuki Wakamoto, Hiroko Ikeda, Hiroki Kitaura, Kazushi Aoto, Mitsuko Nakashima, Tianying Wang, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Akiyoshi Kakita, Kensuke Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
    • Organizer
      13th European Congress on Epileptology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] てんかん性脳症の成因―遺伝子診断のup to date―2017

    • Author(s)
      加藤光広
    • Organizer
      第11回日本てんかん学会関東甲信越地方会:新宿
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] PROSC mutations feature variable phenotype of early-onset epileptic encephalopathy2017

    • Author(s)
      Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, Khoo Chai Soon, Muzhirah Haniffa, Ch'ng Gaik Siew, Kazuma Takada, Keisuke Nakajima, Masayasu Ohta, Tohru Okanishi, Sotaro Kanai, Ayataka Fujimoto, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
    • Organizer
      American Epilepsy Society 2017, 71st Annual Meeting: Washington D.C.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] Why aetiology matters.2017

    • Author(s)
      Kato Mitsuhiro
    • Organizer
      The 32nd International Epilepsy Congress (IEC 2017), Barcelona
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09975
  • [Presentation] CVI 重症度評価スケールの紹介2013

    • Author(s)
      境信哉, 星有理香, 加藤光広
    • Organizer
      滑脳症親の会定例会/厚労科研PPS 班共催合同シンポジウム
    • Place of Presentation
      大分
    • Data Source
      KAKENHI-PROJECT-23500578
  • [Presentation] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome: Involvement of chromosomal aberrations in patients with early epileptic encephalopathy.2013

    • Author(s)
      Nakamura K, Saitsu H, Kato M, Osaka H, Yamashita S, Nakagawa E, et al.
    • Organizer
      30th International Epilepsy Congress
    • Place of Presentation
      Palais des congres de Montreal, Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] 大脳性視覚障害を伴う重度心身障害児・者を対象とした非運動性視覚行動評価尺度の開発2013

    • Author(s)
      境信哉, 八田達夫, 池田歩, 星有理香, 桜庭聡, 加藤光広, 平山和美, 平元東, 鳥井希恵子, 吉田雅紀, 水上未香, 古川章子, 高木陽出
    • Organizer
      第1回北海道重症心身障害医療研究会
    • Place of Presentation
      札幌
    • Data Source
      KAKENHI-PROJECT-23500578
  • [Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria.2013

    • Author(s)
      Murakami Y, Kato M, Saitsu H, Kikuchi K, Watanabe S, Iai M, Matsuura R, Takayama R, Ohba C, Hamano S, Osaka H, Hayasaka K, Matsumoto N, Kinoshita T
    • Organizer
      55th American Society of Hematology Annual Meeting and Exposition
    • Place of Presentation
      Ernest N. Morial Convention Center, New Orleans, USA
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] Early-onset epileptic encephalopathies caused by PIGA gene mutation.2013

    • Author(s)
      Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Matsuura R, Takayama R, Hamano S, Kinoshita T, Hayasaka K, Matsumoto N
    • Organizer
      American Epilepsy Society Annual Meeting 2013
    • Place of Presentation
      Walter E. Washington Convention Center, Washington, D.C., USA
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] Phenotypic spectrum of SPTAN1 encephalopathy.2013

    • Author(s)
      Tohyama J, Akasaka N, Writzl K, Nonoda Y, Hamdan FF, Michaud JL, Osaka H, Shimono M, Kato M, Matsumoto N, Saitsu H.
    • Organizer
      30th International Epilepsy Congress
    • Place of Presentation
      Palais des congres de Montreal, Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] The Genetic Background of Cortical Dysplasias2013

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      2013 Cortical Dysplasia Symposium
    • Place of Presentation
      Zenda Suites, Tainan, Taiwan
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] Lissencephaly and related disorders.2012

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      International Child Neurology Congress (ICNC) Pre Congress Symposium Malformations of Cortical Development
    • Place of Presentation
      Brisbane Convention and Exhibition Centre, Brisbane, Australia
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] New genetic discoveries in malignant forms of neonatal seizures.2012

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      The conjoined congresses of the 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology (ICNC&#8260;AOCCN 2012)
    • Place of Presentation
      Brisbane Convention and Exhibition Centre, Brisbane, Australia
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] Ohtahara syndrome and other neonatal-onset epileptic encephalopathies caused by missense mutations of the KCNQ2 gene.2012

    • Author(s)
      Kato M, Saitsu H, Yamagata T, Arai H, Fujii T, Hirata Y, Kusama Y, Yamashita S, Nakagawa T, Koide A, Goto T, Kubota M, Fujita T, Ihara Y, Sugai K, Saito K, Hayasaka K, Matsumoto N
    • Organizer
      American Epilepsy Society 2012 Annual meeting
    • Place of Presentation
      San Diego Convention Center, San Diego, USA
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] Genetics in Epilepsy, update.2012

    • Author(s)
      Mitsuhiro Kato
    • Organizer
      Annual Autumn Meeting of the Korean Child Neurology Society
    • Place of Presentation
      Novotel Busan Ambassador hotel, Busan, Korea
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] 脳形成異常とてんかん2011

    • Author(s)
      加藤光広
    • Organizer
      第45回日本てんかん学会総会
    • Place of Presentation
      新潟市 朱鷺メッセ(招待講演)
    • Year and Date
      2011-10-06
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成異常とてんかん.ランチョンセミナー2011

    • Author(s)
      加藤光広
    • Organizer
      第45回日本てんかん学会総会
    • Place of Presentation
      新潟市朱鷺メッセ新潟コンベンションセンター
    • Year and Date
      2011-10-06
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Mutation analysis of TUBA1A in patients with lissencephaly sequence2011

    • Author(s)
      Kato M, et al.
    • Organizer
      2011 Pediatric Academic Societies' & Asian Society for Pediatric Research Joint Meeting
    • Place of Presentation
      Denver, USA
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] EOEE with STXBP1 abnormalities2011

    • Author(s)
      Kato M, Scheffer IE
    • Organizer
      International workshop for genetically determined early onset epileptic encephalopathies (EOEE) : from phenotype to diagnostic algorithms
    • Place of Presentation
      Florence, Italy(invited lecture)(招待講演)
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成異常の分子病態とMRI診断2011

    • Author(s)
      加藤光広
    • Organizer
      第6回小児神経放射線研究会
    • Place of Presentation
      京都 メルパルク京都(招待講演)
    • Year and Date
      2011-10-29
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成障害の遺伝型と表現型2011

    • Author(s)
      加藤光広
    • Organizer
      第52回日本神経病理学会シンポジウム「脳形成障害とオミックス」講演
    • Place of Presentation
      京都市京都テルサ
    • Year and Date
      2011-06-03
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Analysis of a cohort of Japanese patients with EOEE and overview of treatment issues2011

    • Author(s)
      Kato M
    • Organizer
      Genetically determined early onset epileptic encephalopathies : from phenotype to diagnostic algorithms
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成異常の画像診断2011

    • Author(s)
      加藤光広
    • Organizer
      日本小児神経学会実践教育セミナー「小児神経科医のための画像診断」
    • Place of Presentation
      横浜 パシフィコ横浜(招待講演)
    • Year and Date
      2011-05-25
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] てんかんと遺伝子2011

    • Author(s)
      加藤光広
    • Organizer
      山形県小児科医会総会特別講演
    • Place of Presentation
      山形市ホテルキャッスル
    • Year and Date
      2011-05-22
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Analysis of a cohort of Japanese patients with EOEE and overview of treatment issues2011

    • Author(s)
      Kato M
    • Organizer
      International workshop for genetically determined early onset epileptic encephalopathies (EOEE) : from phenotype to diagnostic algorithms
    • Place of Presentation
      Florence, Italy(invited lecture)(招待講演)
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] EOEE with ARX abnormalities2011

    • Author(s)
      Kato M, Guerrini R
    • Organizer
      International workshop for genetically determined early onset epileptic encephalopathies (EOEE) : from phenotype to diagnostic algorithms
    • Place of Presentation
      Florence, Italy(招待講演)
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成障害の遺伝型と表現型2011

    • Author(s)
      加藤光広
    • Organizer
      第52回日本神経病理学会 シンポジウム「脳形成障害とオミックス」
    • Place of Presentation
      京都 京都テルサ(招待講演)
    • Year and Date
      2011-06-30
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] EOEE with STXBP1 abnormalities2011

    • Author(s)
      Kato M, Scheffer IE
    • Organizer
      Genetically determined early onset epileptic encephalopathies : from phenotype to diagnostic algorithms
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Early-onset epileptic encephalopathies (EOEE) with ARX abnormalities.2011

    • Author(s)
      Kato M, Guerrini R
    • Organizer
      Genetically determined early onset epileptic encephalopathies : from phenotype to diagnostic algorithms
    • Place of Presentation
      Florence, Italy
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 介在ニューロンとシナプスからみたてんかん性脳症の病態2010

    • Author(s)
      加藤光広
    • Organizer
      第37回多摩てんかん懇話会特別講演
    • Place of Presentation
      東京都立川市アミューたちかわ(立川市民会館)
    • Year and Date
      2010-12-11
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Haploinsufficiency of STXBP1 is an important cause for Ohtahara syndrome, but not for cryptogenic West syndrome.2010

    • Author(s)
      Kato M, et al.
    • Organizer
      8th Asian & Oceanian Epilepsy Congress
    • Place of Presentation
      Melbourne, Australia
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] A new clinical epileptic syndrome caused by SPTAN1 mutation2010

    • Author(s)
      Tohyama J, Kato M, Matsumoto N.(7名6番目)
    • Organizer
      8th Asian & Oceanian Epilepsy Congress, Melbourne Convention and Exhibition Centre
    • Place of Presentation
      Melbourne, Australia
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 画像と分子病態からみた乳児期の難治てんかん.シンポジウム2「てんかん症候群に対する多面的アプローチ」シンポジスト2010

    • Author(s)
      加藤光広
    • Organizer
      第44回日本てんかん学会総会
    • Place of Presentation
      岡山市岡山コンベンションセンター
    • Year and Date
      2010-10-15
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] てんかん性脳症の分子病態2010

    • Author(s)
      加藤光広
    • Organizer
      第74回大阪小児神経学懇話会特別講演
    • Place of Presentation
      大阪市ガーデンシティクラブ大阪オリオン
    • Year and Date
      2010-02-25
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Autosomal dominant form of periventricular nodular heterotpia.2010

    • Author(s)
      Kato M, et al.
    • Organizer
      11^<th> International Child Neurology Congress Meeting
    • Place of Presentation
      Cairo, Egypt
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 大脳皮質形成障害の新しい視点-ARXと介在ニューロン病2010

    • Author(s)
      加藤光広
    • Organizer
      第41回慶応ニューロサイエンス研究会
    • Place of Presentation
      東京 招待講演
    • Year and Date
      2010-11-06
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 大脳皮質形成障害の新しい視点.ARXと介在ニューロン病2010

    • Author(s)
      加藤光広
    • Organizer
      第41回慶応ニューロサイエンス研究会招待講演
    • Place of Presentation
      東京都新宿区慶應大学医学部北里講堂
    • Year and Date
      2010-11-06
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 画像と分子病態からみた乳児期の難治てんかん.シンポジウム2「てんかん症候群に対する多面的アプローチ」2010

    • Author(s)
      加藤光広
    • Organizer
      第44回日本てんかん学会総会
    • Place of Presentation
      岡山市(招待講演)
    • Year and Date
      2010-10-15
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 遺伝子からみた大田原症候群とウエスト症候群の病態2010

    • Author(s)
      加藤光広
    • Organizer
      第23回埼玉小児神経学懇話会特別講演
    • Place of Presentation
      さいたま市大宮ソニックシティー
    • Year and Date
      2010-02-27
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Haploinsufficiency of STXBP1 is an important cause for Ohtahara syndrome, but not for cryptogenic West syndrome2010

    • Author(s)
      Kato M.(21名1番目)
    • Organizer
      8th Asian & Oceanian Epilepsy Congress, Melbourne Convention and Exhibition Centre
    • Place of Presentation
      Melbourne, Australia
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 乳幼児期てんかん性脳症の分子遺伝学的発症機構2010

    • Author(s)
      加藤光広
    • Organizer
      第10回北海道小児神経症例検討会
    • Place of Presentation
      札幌市KKR札幌ホテル
    • Year and Date
      2010-01-23
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 介在ニューロンとシナプスからみたてんかん性脳症の病態2010

    • Author(s)
      加藤光広
    • Organizer
      第37回多摩てんかん懇話会
    • Place of Presentation
      立川 特別講演
    • Year and Date
      2010-12-11
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Frameshift mutations in the terminal exon of ARX cause Ohtahara syndrome2009

    • Author(s)
      Kato M, Koyama N, Ohta M, Miura K, Hayasaka K
    • Organizer
      American Epilepsy Society 63rd Annual Meeting
    • Place of Presentation
      Boston, USA
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).日本てんかん学会JUHN & MARY WADA奨励賞受賞講演2009

    • Author(s)
      加藤光広, ほか
    • Organizer
      第43回日本てんかん学会総会
    • Place of Presentation
      弘前市
    • Year and Date
      2009-10-22
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成障害・てんかんのトピックス-年齢依存性てんかん性脳症と介在ニューロン病-.2009

    • Author(s)
      加藤光広
    • Organizer
      第51回日本小児神経学会総会教育講演
    • Place of Presentation
      米子市米子コンベンションセンター
    • Year and Date
      2009-05-29
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成障害の分子機構2009

    • Author(s)
      加藤光広
    • Organizer
      第11回つくば小児神経内科外科懇話会-牧メモリアルカンファレンス-
    • Place of Presentation
      つくば市(特別講演)
    • Year and Date
      2009-10-25
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Frameshift mutations in the terminal exon of ARX cause Ohtahara syndrome.2009

    • Author(s)
      Kato M, et al.
    • Organizer
      American Epilepsy Society 63rd Annual Meeting
    • Place of Presentation
      Boston, USA
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Clinical spectrum of Ohtahara syndrome caused by STXBP1 mutation2009

    • Author(s)
      Kato M.(15名1番目)
    • Organizer
      The 28th International Epilepsy Congress
    • Place of Presentation
      Budapest, Hungary
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] 脳形成障害・てんかんのトピックス-年齢依存性てんかん性脳症と介在ニューロン病-2009

    • Author(s)
      加藤光広
    • Organizer
      第51回日本小児神経学会総会
    • Place of Presentation
      米子市(教育講演)
    • Year and Date
      2009-05-29
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] ARX gene as a genetic marker for catastrophic neurological disorders and related conditions2009

    • Author(s)
      Kato M
    • Organizer
      The 10th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Dague, Korea
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Clinical spectrum of Ohtahara syndrome caused by STXBP1 mutation.2009

    • Author(s)
      Kato M, et al.
    • Organizer
      28th International Epilepsy Congress
    • Place of Presentation
      Budapest, Hungary
    • Year and Date
      2009-07-01
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] ARX gene as a genetic marker for catastrophic neurological disorders and related conditions.(invited lecture for Hot Topic Symposium)2009

    • Author(s)
      Kato M, et al.
    • Organizer
      10th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Daegu, Korea
    • Year and Date
      2009-06-13
    • Data Source
      KAKENHI-PROJECT-21591312
  • [Presentation] Interneuronopathy bridging the gap between brain malformations and functional disorders2008

    • Author(s)
      Kato M, et.al.
    • Organizer
      The 3^<rd> Symposium Pediatric Neurology
    • Place of Presentation
      Munich, Germany
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Interneuronopathy bridging the gap between brain malformations and functional disorders2008

    • Author(s)
      Kato M
    • Organizer
      The 3rd German-Japanese Symposium Pediatric Neurology
    • Place of Presentation
      Munich, Germany
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Candidate genes (ARX, CDKL5, and SLC25A22) mutation screening for early-onset epileptic encephalopathy2008

    • Author(s)
      Kato M, et.al.
    • Organizer
      The 4th Congress of the Asian Society for Pediatric Res
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Candidate genes (ARX, CDKL5, and SLC25A22) mutation screening for early-onset epileptic encephalopathy2008

    • Author(s)
      Kato M, Nakamura K, Matsumoto N, Osaka H, Hayasaka K
    • Organizer
      The 4th Congress of the Asian Society for Pediatric Research
    • Place of Presentation
      Honolulu, Hawaii, USA
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) is caused by longer polyalanine expansion mutation of the ARX gene than West syndrome2007

    • Author(s)
      Kato M, Saitoh S, Shiraishi H, Tohyama J, Akasaka N, Hayasaka K
    • Organizer
      The 9th Asian and Oceanian Congress of Child Neurology
    • Place of Presentation
      Cebu
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Early infantile epileptic encephalopathy with suppression-burst(Ohtahara syndrome)is caused by a longer polyalanine expansion mutation in the ARX gene2007

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Kumada S, Kubota M, Nakamura K, Hayasaka K
    • Organizer
      57th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) is caused by a longer polyalanine expansion mutation in the ARX gene.2007

    • Author(s)
      Kato M, et. al.
    • Organizer
      57th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] A longer polyalanine expansion mutation in the ARX gene causes Ohtahara syndrome2007

    • Author(s)
      Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K
    • Organizer
      The 10th Annual Meeting of the Infantile Seizure Society International Symposium on Biology of Seizure Susceptibility
    • Place of Presentation
      Tokyo
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Construction of research resource depository in Japan and molecular genetics study on genetic diseases with mental retardation2007

    • Author(s)
      Goto Y-I, Nakagawa E, Takano K, Inazawa J, Okazawa H, Kato M, Kubota T, Kurosawa K, Saitoh S, Nanba E, Matsumoto N, Toda T, Wada T
    • Organizer
      The 13th International Workshop on Fragile X and X-Linked Mental Retardation
    • Place of Presentation
      Venezia Lido, Italy
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] Severe mutations of ARX are associated with an abnormal phenotype in most heterozygous females but not in mothers of affected children2007

    • Author(s)
      Sudi J, Kato M, Mancini G, Toutain A, Das S, Christian S, Dobyns W
    • Organizer
      57th Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      San Diego, USA
    • Data Source
      KAKENHI-PROJECT-19591198
  • [Presentation] 大脳性視覚障害を伴う重度心身障害児・者を対象とした非運動性視覚行動評価尺度の開発

    • Author(s)
      境 信哉,八田達夫,池田 歩,星有理香,桜庭 聡,加藤光広,平山和美,平元 東,鳥井希恵子,吉田雅紀,水上未香,古川章子,高木陽出
    • Organizer
      第1回北海道重症心身障害医療研究会
    • Place of Presentation
      アスティ45(札幌市)
    • Invited
    • Data Source
      KAKENHI-PROJECT-23500578
  • [Presentation] Interneuronopathies and genetics of the epileptic encephalopathies.

    • Author(s)
      Kato M
    • Organizer
      10th Asian & Oceanian Epilepsy Congress
    • Place of Presentation
      The Grand copthorne Waterfront,Singapore
    • Year and Date
      2014-08-07 – 2014-08-10
    • Invited
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] SCN8Aのde novo変異が原因となる乳児期早期発症の難治性てんかんについての検討.

    • Author(s)
      大場ちひろ、加藤光広、高橋悟、寺嶋宙、久保田雅也、川脇壽、松藤まゆみ、小島泰子、舘野昭彦、中島光子、西山精視、鶴崎美徳、三宅紀子、田中章景、才津浩智、松本直通
    • Organizer
      日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会合同大会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2014-11-20 – 2014-11-22
    • Data Source
      KAKENHI-PROJECT-24591500
  • [Presentation] CVI重症度評価スケールの紹介 [

    • Author(s)
      境 信哉, 星有理香, 加藤光広
    • Organizer
      滑脳症親の会定例会/厚労科研PPS班共催合同シンポジウム
    • Place of Presentation
      コンパルホール(大分)
    • Invited
    • Data Source
      KAKENHI-PROJECT-23500578
  • []

  • []

  • 1.  NAKAMURA Kazuyuki (20436215)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 6 results
  • 2.  SAITOH Shinji (00281824)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 3.  SAKAI Shinya (30299804)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 6 results
  • 4.  MAKI Makoto (40165668)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 5.  KOJIMA Toshio (00311340)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 6.  MATSUMOTO Naomichi (80325638)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 15 results
  • 7.  HIRAYAMA Kazumi (00218819)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 8.  宮 冬樹 (50415311)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 5 results
  • 9.  SUDOH Akira (90374412)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  GOTO Kaoru (30234975)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 11.  MIYAKE Noriko (40523494)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 12.  OKAMOTO Nobuhiko (30416242)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 13.  TAKAHASHI Nobuya (20536958)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 14.  KIKUCHI Takahiro (00594300)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 15.  SAITSU Hirotomo (40402838)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 17 results
  • 16.  HAYASAKA Kiyoshi (20142961)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 17.  KIMURA Toshiyuki (90292432)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  MITSUI Tetsuo (30270846)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  山口 敦子 (10346108)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  SAKAI Naoko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  IKEDA Ayumi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 22.  TANAKA Fumiaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 23.  ADACHI Hiroaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 24.  HIROSE Tomonori
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  溝口 出
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 26.  善本 隆之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 27.  青天目 信
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  宮武 聡子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 29.  伊東 秀記
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 30.  水口 剛
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 6 results
  • 31.  藤田 京志
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  高田 英俊
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 33.  土井 宏
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 34.  柏井 洋文
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 35.  福田 光成
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 36.  青戸 一司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 37.  豊田 知子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 38.  山形 崇倫
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 39.  福嶋 義光
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 40.  和田 芳直
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 41.  森田 洋
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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