ISHII Atsushi 石井敦士

Researcher Number	90568825
Other IDs	https://orcid.org/0000-0002-4423-2810
Affiliation (based on the past Project Information) *help	2023: 国際医療福祉大学, 福岡保健医療学部, 教授 2022: 福岡国際医療福祉大学, 医療学部, 教授 2021: 国際医療福祉大学, 福岡保健医療学部, 教授 2019 – 2020: 福岡大学, 医学部, 准教授 2010 – 2013: Fukuoka University, 医学部, 助手
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator 次世代シークエンサー / エクソーム解析 / てんかん / 遺伝子 / 発達性てんかん性脳症 / 遺伝子解析 / ドラベ症候群 / ネットワーク / バリアント / ドラべ症候群 … More / 不随運動 / 麻痺 / 全エクソーム / ジストニア / パーキンソン病 / ATP１A3 / 小児交互性片麻痺 / チャネル / 国際情報交換 / 発達障害 / 麻痺発作 / 小児神経疾患 / イオンチャネル / 不随意運動 / ATP1A3 / 小児神経 … More Except Principal Investigator ハイスループットスクリーニング / 創薬 / ハイスルーブットスクリーニング / 遺伝子改変動物 / iPS細胞 / てんかん Less

Fundamental Research for an Innovative Drug Discovery Based on the Molecular Pathomechanisms of Refractory Epilepsy Using a Multidimensional Approach.
- Principal Investigator
  
  Hirose Shinichi
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Fukuoka University
Elucidating molecular network of Dravet syndrome by genetic approachesPrincipal Investigator
- Principal Investigator
  
  石井敦士
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Fukuoka International University of Health and Welfare
  International University of Health and Welfare
  Fukuoka University
The clarification of molecular pathology of alternating hemiplegia of childhood.Principal Investigator
- Principal Investigator
  
  ISHII Atsushi
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Fukuoka University
小児交互性片麻痺の分子病態の解明Principal Investigator
- Principal Investigator
  
  石井敦士
- Project Period (FY)
  2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Fukuoka University

All 2022 2021 2020 2019 2014 2013 2012 2011 Other

All Journal Article Presentation Other

[Journal Article] CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate2022
- Author(s)
  Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai YJ, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano S, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore AW, Yamakawa K.
- Journal Title
  
  Scientific Reports
  
  Volume: 12 Issue: 1 Pages: 6505-6505
- DOI
  10.1038/s41598-022-10715-w
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K06436, KAKENHI-PROJECT-21K07788, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
[Journal Article] Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan.2022
- Author(s)
  Inoue Y, Hamano SI, Hayashi M, Sakuma H, Hirose S, Ishii A, Honda R, Ikeda A, Imai K, Jin K, Kada A, Kakita A, Kato M, Kawai K, Kawakami T, Kobayashi K, Matsuishi T, Matsuo T, Nabatame S, Okamoto N, Ito S, Okumura A, Saito A, Shiraishi H, Shirozu H, Saito T, Sugano H, Takahashi Y, Yamamoto H, Fukuyama T, Kuki I.
- Journal Title
  
  Epileptic Disord
  
  Volume: 24 Issue: 1 Pages: 82-94
- DOI
  10.1684/epd.2021.1361
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H01038, KAKENHI-PROJECT-19H01061, KAKENHI-PROJECT-20K21573, KAKENHI-PROJECT-21K07810, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
[Journal Article] 新生児けいれんを起こし, 遺伝子異常を認めた6症例の比較2022
- Author(s)
  大滝里美, 颯佐かおり, 寺西宏美, 櫻井隼人, 國方徹也, 石井敦士, 加藤光広, 山内秀雄
- Journal Title
  
  脳と発達 54(4): 290-290, 2022.
  
  Volume: 54 Pages: 290-290
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] Precision medicine～遺伝子変異によるてんかんとその治療～2022
- Author(s)
  石井敦士
- Journal Title
  
  Epilepsy
  
  Volume: 16 Pages: 99-105
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome.2022
- Author(s)
  Kikuchi K, Hamano SI, Matsuura R, Nonoyama H, Daida A, Hirata Y, Koichihara R, Hirano D, Ishii A, Hirose S.
- Journal Title
  
  Brain Dev
  
  Volume: 44(5) Issue: 5 Pages: 319-28
- DOI
  10.1016/j.braindev.2022.01.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
[Journal Article] 神経疾患と遺伝子検索2022
- Author(s)
  石井敦士
- Journal Title
  
  小児内科
  
  Volume: 54 Pages: 236-239
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] Neuroanatomical considerations for optimizing thalamic deep brain stimulation in Tourette syndrome2022
- Author(s)
  Morishita Takashi、Sakai Yuki、Iida Hitoshi、Yoshimura Saki、Ishii Atsushi、Fujioka Shinsuke、Tanaka Saori C.、Inoue Tooru
- Journal Title
  
  Journal of Neurosurgery
  
  Volume: 136 Issue: 1 Pages: 231-241
- DOI
  10.3171/2021.2.jns204026
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-16H06396, KAKENHI-PROJECT-19K17381
[Journal Article] Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review2022
- Author(s)
  Takeda Kanako、Miyamoto Yusaku、Yamamoto Hisako、Iwasaki Toshiyuki、Sumitomo Noriko、Takeshita Eri、Ishii Atsushi、Hirose Shinichi、Shimizu Naoki
- Journal Title
  
  Pediatric Reports
  
  Volume: 14 Issue: 4 Pages: 386-395
- DOI
  10.3390/pediatric14040046
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
[Journal Article] Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.2021
- Author(s)
  Epi25 Collaborative (Shinichi Hirose, Atsushi Ishii)
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 108(10) Pages: 965-982
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03651
[Journal Article] PCDH19 missense and truncating variants in PCDH19-related epilepsy.2021
- Author(s)
  Shibata M, Ishii A, Goto A, Hirose S.
- Journal Title
  
  J Hum Genet.
  
  Volume: 66(6) Pages: 569-78
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03651
[Journal Article] Current medico-psycho-social conditions of patients with West syndrome in Japan2021
- Author(s)
  Yoshitomi S, Hamano SI, Hayashi M, ... Matsuo T (18/32), et al
- Journal Title
  
  Epileptic Disord
  
  Volume: 23 Issue: 4 Pages: 579-589
- DOI
  10.1684/epd.2021.1301
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H01038, KAKENHI-PROJECT-19H01061, KAKENHI-PROJECT-20K21573, KAKENHI-PROJECT-19K17381
[Journal Article] Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion2020
- Author(s)
  Shibata Akiko、Kasai Mariko、Terashima Hiroshi、Hoshino Ai、Miyagawa Taku、Kikuchi Kenjiro、Ishii Atsushi、Matsumoto Hiroshi、Kubota Masaya、Hirose Shinichi、Oka Akira、Mizuguchi Masashi
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 414 Pages: 116808-116808
- DOI
  10.1016/j.jns.2020.116808
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651
[Journal Article] Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B2020
- Author(s)
  Fujita Takako、Ihara Yukiko、Hayashi Hitomi、Ishii Atsushi、Ideguchi Hiroshi、Inoue Takahito、Imaizumi Taichi、Yamamoto Toshiyuki、Hirose Shinichi
- Journal Title
  
  Congenital Anomalies
  
  Volume: 60 Issue: 6 Pages: 189-193
- DOI
  10.1111/cga.12383
- NAID
  50014626632
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07803
[Journal Article] KCNQ2遺伝子のミスセンス変異を共有するてんかん性脳症と良性てんかんの分子病態をmRNA-Seqにより解明する2020
- Author(s)
  柴田磨己、石井敦士、廣瀨伸一
- Journal Title
  
  てんかん治療研究振興財団　研究年報
  
  Volume: 31 Pages: 9-16
- Data Source
  KAKENHI-PROJECT-20H03651
[Journal Article] Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors2020
- Author(s)
  Hoshino Hiroki、Takayama Kazuko、Ishii Atsushi、Takahashi Yukitoshi、Kanemura Hideaki
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 9 Pages: 686-690
- DOI
  10.1016/j.braindev.2020.05.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07865
[Journal Article] 続編　てんかんを分かり易く理解するための神経科学　遺伝子変異2020
- Author(s)
  石井　敦士
- Journal Title
  
  てんかん研究
  
  Volume: 37 Pages: 828-836
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-20172020
- Author(s)
  Kasai Mariko、Shibata Akiko、Hoshino Ai、Maegaki Yoshihiro、Yamanouchi Hideo、Takanashi Jun-ichi、Yamagata Takanori、Sakuma Hiroshi、Okumura Akihisa、Nagase Hiroaki、Ishii Atsushi、Goto Tomohide、Oka Akira、Mizuguchi Masashi
- Journal Title
  
  Brain and Development
  
  Volume: ー Issue: 7 Pages: 508-514
- DOI
  10.1016/j.braindev.2020.04.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-18K15700
[Journal Article] Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.2020
- Author(s)
  Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H.
- Journal Title
  
  Brain Dev.
  
  Volume: 42 Issue: 1 Pages: 73-76
- DOI
  10.1016/j.braindev.2019.08.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651
[Journal Article] Application of induced pluripotent stem cells in epilepsy2020
- Author(s)
  Hirose Shinichi、Tanaka Yasuyoshi、Shibata Mami、Kimura Yuichi、Ishikawa Mitsuru、Higurashi Norimichi、Yamamoto Toshiyuki、Ichise Eisuke、Chiyonobu Tomohiro、Ishii Atsushi
- Journal Title
  
  Molecular and Cellular Neuroscience
  
  Volume: 108 Pages: 103535-103535
- DOI
  10.1016/j.mcn.2020.103535
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-18K07802, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K15735
[Journal Article] Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy2020
- Author(s)
  Shibata Mami、Ishii Atsushi、Goto Ayako、Hirose Shinichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 6 Pages: 569-578
- DOI
  10.1038/s10038-020-00880-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-19K17381
[Journal Article] Learning-1　てんかん2020
- Author(s)
  Ishii Atsushi
- Journal Title
  
  遺伝子医学
  
  Volume: 33
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] 10：遺伝子変異2020
- Author(s)
  Ishii Atsushi
- Journal Title
  
  Journal of the Japan Epilepsy Society
  
  Volume: 37 Issue: 3 Pages: 828-836
- DOI
  10.3805/jjes.37.828
- NAID
  130007792103
- ISSN
  0912-0890, 1347-5509
- Year and Date
  2020-01-31
- Language
  Japanese
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy2019
- Author(s)
  Goto Ayako、Ishii Atsushi、Shibata Mami、Ihara Yukiko、Cooper Edward C.、Hirose Shinichi
- Journal Title
  
  Epilepsia
  
  Volume: 60 Issue: 9 Pages: 1870-1880
- DOI
  10.1111/epi.16314
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-16H06276
[Journal Article] Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome2019
- Author(s)
  Yoshitomi Shinsaku、Takahashi Yukitoshi、Yamaguchi Tokito、Imai Katsumi、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
- Journal Title
  
  Epilepsy Research
  
  Volume: 154 Pages: 34-38
- DOI
  10.1016/j.eplepsyres.2019.02.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-18K07865
[Journal Article] 【小児神経難病の臨床】Dravet症候群2019
- Author(s)
  石井　敦士
- Journal Title
  
  小児科
  
  Volume: 60 Pages: 941-947
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia2019
- Author(s)
  Okumura Akihisa、Shimojima Keiko、Kurahashi Hirokazuら.
- Journal Title
  
  Seizure
  
  Volume: 71 Pages: 1-5
- DOI
  10.1016/j.seizure.2019.05.017
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-16H06276
[Journal Article] Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations2019
- Author(s)
  Yoshitomi, Shinsaku Takahashi, Yukitoshi Yamaguchi, Tokito Oboshi, Taikan Horino, Asako Ikeda, Hiroko Imai, Katsumi Okanishi, Tohru Nakashima, Mitsuko Saitsu, Hirotomo Matsumoto, Naomichi Yoshimoto, Jun Fujita, Takako Ishii, Atsushi Hirose, Shinichi Inoue, Yushi
- Journal Title
  
  Epileptic Disord
  
  Volume: 21 Pages: 48-54
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] Corrigendum to “Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome” [Epilepsy Res. 154 (2019) 34?38]2019
- Author(s)
  Yoshitomi Shinsaku、Takahashi Yukitoshi、Yamaguchi Tokito、Imai Katsumi、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
- Journal Title
  
  Epilepsy Research
  
  Volume: 156 Pages: 106158-106158
- DOI
  10.1016/j.eplepsyres.2019.106158
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381
[Journal Article] Heart rate variability in a patient with alternating hemiplegia2019
- Author(s)
  Nakashima Tsutomu、Yasuda Kanji、Kobayashi Makoto、Wada Hisayasu、Ishii Atsushi、Hirose Shinichi
- Journal Title
  
  Intractable & Rare Diseases Research
  
  Volume: 8 Issue: 2 Pages: 134-137
- DOI
  10.5582/irdr.2019.01060
- NAID
  130007663250
- ISSN
  2186-361X, 2186-3644
- Year and Date
  2019-05-31
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-16H06276
[Journal Article] Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel2019
- Author(s)
  Hirabayashi Kyoko、Uehara Daniela Tiaki、Abe Hidetoshi、Ishii Atsushi、Moriyama Keiji、Hirose Shinichi、Inazawa Johji
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 11 Pages: 1097-1106
- DOI
  10.1038/s10038-019-0661-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-19H03857, KAKENHI-PROJECT-16H06276
[Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)2019
- Author(s)
  Yoshitomi Shinsaku、Takahashi Yukitoshi、Imai Katsumi、Koshimizu Eriko、Miyatake Satoko、Nakashima Mitsuko、Saitsu Hirotomo、Matsumoto Naomichi、Kato Mitsuhiro、Fujita Takako、Ishii Atsushi、Hirose Shinichi、Inoue Yushi
- Journal Title
  
  Seizure
  
  Volume: 65 Pages: 118-123
- DOI
  10.1016/j.seizure.2019.01.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16K15532, KAKENHI-PROJECT-16H06276, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07865
[Journal Article] Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood2014
- Author(s)
  Sasaki M, Ishii A, Saito Y, (中略）, Tsuji S and Hirose S.
- Journal Title
  
  Neurology
  
  Volume: 82 Issue: 6 Pages: 482-490
- DOI
  10.1212/wnl.0000000000000102
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22129002, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-221S0002
[Journal Article] Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy2014
- Author(s)
  Ishii A., Kanaumi T., Sohda M., Misumi Y., Zhang B., Kakinuma N., Haga Y., Watanabe K., Takeda S., Okada M., Ueno S., Kaneko S., Takashima S., Hirose S.
- Journal Title
  
  Epilepsy Res
  
  Volume: 108(3) Pages: 420-432
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism2014
- Author(s)
  Sasaki M., Ishii A., Saito Y., Hirose S.
- Journal Title
  
  Mov Disord
  
  Volume: 29(1) Pages: 153-154
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Genotype-phenotype correlations in alternating hemiplegia of childhood2014
- Author(s)
  S asaki M., Ishii A., Saito Y., Morisada N., Iijima K., Takada S., Araki A., Tanabe Y., Arai H., Yamashita S., Ohashi T., Oda Y., Ichiseki H., Hirabayashi S., Yasuhara A., Kawawaki H., Kimura S., Shimono M., Narumiya S., Suzuki M., Yoshida T., Oyazato Y., Tsuneishi S., Ozasa S., Yokochi K., Dejima S., Akiyama T., Kishi N., Kira R., Ikeda T., Oguni H., Zhang B., Tsuji S., Hirose S.
- Journal Title
  
  Neurology
  
  Volume: 82(6) Pages: 482-490
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.2014
- Author(s)
  Sasaki M, Ishii A, Saito Y, Hirose S.
- Journal Title
  
  Movement disorders
  
  Volume: 29 Issue: 1 Pages: 153-154
- DOI
  10.1002/mds.25659
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-221S0002
[Journal Article] Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome.2014
- Author(s)
  Kouga T, Shimbo H, Iai M, Yamashita S, Ishii A, Ihara Y, Hirose S, Yamakawa K, Osaka H.
- Journal Title
  
  Brain & Development
  
  Volume: 印刷中 Issue: 2 Pages: 243-9
- DOI
  10.1016/j.braindev.2014.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-15H02548
[Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.2013
- Author(s)
  Ishii A, et al
- Journal Title
  
  Brain and Development
  
  Volume: 35 Issue: 6 Pages: 524-30
- DOI
  10.1016/j.braindev.2012.09.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PROJECT-24591531, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481
[Journal Article] Newborn screening for Fabry disease in Japan: Prevalence and genotypes of Fabry disease in a pilot study.2013
- Author(s)
  Inoue　T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S
- Journal Title
  
  J. Hum. Genet.
  
  Volume: 58 Issue: 8 Pages: 548-52
- DOI
  10.1038/jhg.2013.48
- NAID
  10031195285
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504, KAKENHI-PROJECT-23791201
[Journal Article] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.2013
- Author(s)
  Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.
- Journal Title
  
  Gene
  
  Volume: 531 Issue: 2 Pages: 467-71
- DOI
  10.1016/j.gene.2013.08.096
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708
[Journal Article] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy2013
- Author(s)
  Ishii A., Shioda M., Okumura A., Kidokoro H., Sakauchi M., Shimada S., Shimizu T., Osawa M., Hirose S., Yamamoto T.
- Journal Title
  
  Gene
  
  Volume: 531(2) Pages: 467-471
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] 小児神経学の新たな展開ゲノム科学による病因不明・難治性小児神経疾患の病態解明への戦略2013
- Author(s)
  石井敦士,廣瀬伸一
- Journal Title
  
  日本小児科学会雑誌
  
  Volume: 117(9) Pages: 1383-1388
- NAID
  10031195065
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Newborn screening for Fabry disease in Japan : prevalence and genotypes of Fabry disease in a pilot study2013
- Author(s)
  Inoue T., Hattori K., Ihara K., Ishii A., Nakamura K., Hirose S.
- Journal Title
  
  J Hum Genet
  
  Volume: 58(8) Pages: 548-552
- NAID
  10031195285
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Pancreatic Solid Pseudo-Papillary Tumor Detected After Abdominal Injury2013
- Author(s)
  Ishii A., Yoshimura K., Ideguchi .h, Hirose S.
- Journal Title
  
  Gastroenterology Research
  
  Volume: 6(2) Pages: 67-70
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis2013
- Author(s)
  Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Yamashita Y., Takatsuka H., Taga T., Miyata R., Ito M., Tsuchiya H., Matsuoka T., Kitao T., Murakami K., Lee W. T., Kaneko S., Hirose S.
- Journal Title
  
  Brain Dev
  
  Volume: 35(6) Pages: 524-530
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013
- Author(s)
  Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
- Journal Title
  
  PLoS One
  
  Volume: 8 Issue: 2 Pages: e56120-e56120
- DOI
  10.1371/journal.pone.0056120
- Peer Reviewed
- Data Source
  KAKENHI-ORGANIZER-22129001, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-23790384, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-25670481, KAKENHI-PROJECT-25860700, KAKENHI-PROJECT-221S0002, KAKENHI-PLANNED-22129008
[Journal Article] 【抑制性シナプスの基礎と臨床】疾患とその治療における抑制性シナプスの意義てんかんにおけるGABA受容体とK+チャネルの異常2012
- Author(s)
  石井敦士,内田琢,中村友紀,廣瀬伸一
- Journal Title
  
  Clinical Neuroscience
  
  Volume: 30(12) Pages: 1397-1400
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] 【知っておきたいてんかん診療】てんかんと社会てんかんと遺伝子2012
- Author(s)
  廣瀬伸一,日暮憲道,中村友紀,黄壽卿,石井敦士
- Journal Title
  
  Modern Physician
  
  Volume: 32(3) Pages: 282-288
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] KCNQ2 abnormality in BECTS : Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ22012
- Author(s)
  Ishii A., Miyajima T., Kurahashi H., Wang J. W., Yasumoto S., Kaneko S., Hirose S.
- Journal Title
  
  Epilepsy Res
  
  Volume: 102(1-2) Pages: 122-125
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.2012
- Author(s)
  Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S,Epilepsy Genetic Study Group J.
- Journal Title
  
  Epilepsy Res.
  
  Volume: 102(3) Issue: 3 Pages: 195-200
- DOI
  10.1016/j.eplepsyres.2012.06.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-23791201, KAKENHI-PROJECT-24249060
[Journal Article] KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.2012
- Author(s)
  Ishii A, Miyajima T, Kurahashi H, Wang JW, Yasumoto S, Kaneko S, Hirose S.
- Journal Title
  
  Epilepsy reserch
  
  Volume: 102 Issue: 1-2 Pages: 122-5
- DOI
  10.1016/j.eplepsyres.2012.07.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy2012
- Author(s)
  Wang J. W., Shi X. Y., Kurahashi H., Hwang S. K., Ishii A., Higurashi N., Kaneko S., Hirose S., Epilepsy Genetic Study Group Japan
- Journal Title
  
  Epilepsy Res
  
  Volume: 102(3) Pages: 195-200
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] てんかんと遺伝子2012
- Author(s)
  廣瀬伸一、日暮憲道、中村友紀、黄壽卿、石井敦士
- Journal Title
  
  Modern Physician
  
  Volume: 32巻 Pages: 282-288
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] 【てんかん治療の最前線】てんかんの分子病態2012
- Author(s)
  井原由紀子,石井敦士,日暮憲道,内田琢,中村友紀,友納優子,廣瀬伸一
- Journal Title
  
  Medical Science Digest
  
  Volume: 38(7) Pages: 292-295
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation2012
- Author(s)
  Shi X., Wang J., Kurahashi H., Ishii A., Higurashi N., Kaneko S., Hirose S.
- Journal Title
  
  Brain Dev
  
  Volume: 34(8) Pages: 617-619
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] 【臨床に役立つてんかんの最新情報】てんかん遺伝子診断は臨床に役立つか?2011
- Author(s)
  廣瀬伸一,日暮憲道,中村友紀,黄壽卿,石井敦士
- Journal Title
  
  神経内科
  
  Volume: 74(5) Pages: 460-466
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] 【臨床に役立つてんかんの最新情報】てんかん遺伝子診断は臨床に役立つか?2011
- Author(s)
  廣瀬伸一、日暮憲道、中村友紀、黄壽卿、石井敦士
- Journal Title
  
  神経内科
  
  Volume: 74巻 Pages: 460-466
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791201
[Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation2011
- Author(s)
  Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko s, Hirose S
- Journal Title
  
  Brain Dev
  
  Volume: (in press) Issue: 8 Pages: 617-9
- DOI
  10.1016/j.braindev.2011.11.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-23791201
[Presentation] てんかんの遺伝子研究と日常診療での役立ち2020
- Author(s)
  石井　敦士
- Organizer
  日本てんかん学会中国四国地方会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] Beyond genetic basis of monogenic developmental and epileptic encephalopathy2020
- Author(s)
  Atsushi Ishii
- Organizer
  The 21st Annual Meeting of Infantile Seizure Society, International Symposium on the Pathophysiology of Developmental and Epileptic Encephalopathy
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] カルバマゼピンによる治療が有効であったKCNQ2-related neonatal epilepsyの1例2019
- Author(s)
  竹内章人, 廣瀬伸一, 森本大作, 中村信, 影山操, 石井敦士
- Organizer
  第64回　日本新生児成育医学会・学術集会
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] Dravet症候群における発熱時および平熱時の免疫学的反応の解析2019
- Author(s)
  倉橋宏和, 沼本真吾, 奥村彰久, 石井敦士, 廣瀬伸一
- Organizer
  第53回日本てんかん学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] Genetic etiology of neonatal epilepsiesby causes other than abnormalities of sodium ion channels2019
- Author(s)
  Atsushi Ishii
- Organizer
  20th Annual Meeting of Infantile Seizure Society
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] てんかんのPrecision medicineの基盤となる遺伝子研究2019
- Author(s)
  石井　敦士
- Organizer
  第52回日本てんかん学会学術集会記念シンポジウム
- Invited
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] KCNA2遺伝子変異に伴うてんかん性脳症の1男児例2019
- Author(s)
  重田英臣, 福田智文, 柴原淳平, 五十嵐亮太, 石井雅宏, 楠原浩一, 石井敦士, 廣瀬伸一
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] 基礎研究からさぐるてんかん病態: 臨床に役立つ知見　てんかんの遺伝子研究2019
- Author(s)
  石井敦士
- Organizer
  第53回日本てんかん学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] PCDH19遺伝子関連てんかん3症例の臨床的特徴2019
- Author(s)
  田辺仁彦, 林田拓也, 戸川雅美, 西村洋子, 三浦明彦, 石井敦士, 前垣義弘
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] Regional specificity of KCNQ2 missense variants causing benign or epileptic encephalopathy phenotype.2019
- Author(s)
  Atsushi Ishii, Ayako Goto, Mami Shibata, Yukiko Ihara, Shinichi Hirose
- Organizer
  33rd International Epilepsy Congress
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] てんかんの遺伝子研究の進歩2019
- Author(s)
  石井　敦士
- Organizer
  506回小児科学会福岡地方会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] てんかんと遺伝子　てんかん遺伝子情報の解釈の問題点2019
- Author(s)
  石井敦士
- Organizer
  第53回日本てんかん学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] 遊走性焦点発作を伴う乳児てんかんにおける発作抑制期間と発達予後の関連2019
- Author(s)
  野村敏大, 本橋裕子, 石山昭彦, 竹下絵里, 齋藤貴志, 小牧宏文, 中川栄二, 須貝研司, 才津浩智, 藤田京志, 松本直通, 石井敦士, 廣瀬伸一, 佐々木征行
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] HCN1遺伝子バリアントの早期乳児てんかん性脳症の1例2019
- Author(s)
  久保田弘樹, 矢野珠巨, 高橋勉, 石井敦士, 柴田磨己, 廣瀬伸一
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K17381
[Presentation] 小児神経疾患のゲノム解析の現況と将来～てんかんとゲノム～2014
- Author(s)
  石井敦士
- Organizer
  第56回日本小児神経学会近畿地方会学会
- Place of Presentation
  大阪市立総合医療センター
- Invited
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 1. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013
- Author(s)
  Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura , Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose
- Organizer
  30th International Epilepsy Congress
- Place of Presentation
  Montreal
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 家族性片麻痺性片頭痛2 型の母子例2013
- Author(s)
  龍神布紀子、吉岡誠一郎、粟嶋勇也、西倉紀子、高野知行、竹内義博、石井敦士、廣瀬伸一
- Organizer
  第55回日本小児神経学会総会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013
- Author(s)
  Ishii A., Saito Y., Mitsui J., Ishiura H., Yoshimura J., Arai H., Yamashita S., Kimura S., Oguni H., Morishita S., Tsuji S., Sasaki M., Hirose S
- Organizer
  30th International Epilepsy Congress
- Place of Presentation
  (国際学会・シンポジウム)
- Year and Date
  2013-06-26
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 小児交互性片麻痺の原因遺伝子を見つける意義とは、新学術「ゲノム支援」2013
- Author(s)
  石井敦士
- Organizer
  公開シンポジウム「次世代ゲノム科学の最前線」
- Place of Presentation
  京都大学(国内学会・シンポジウム)
- Year and Date
  2013-02-19
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 小児交互性片麻痺の病因遺伝子であるATP1A3の同定と現状について2013
- Author(s)
  石井敦士、佐々木征行、斎藤義朗、廣瀬伸一
- Organizer
  第55回小児神経学会総会
- Place of Presentation
  大分(国内学会・シンポジウム)
- Year and Date
  2013-05-31
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 乳児痙攣、ICCA症候群、軽症胃腸炎に伴う痙攣でのＰＲＲＴ２遺伝子の解析2013
- Author(s)
  石井敦士
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島市
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] ミダゾラムが片麻痺発作抑制に有効であった小児交互性片麻痺の1 例2013
- Author(s)
  荒木敦、田邉裕子、石井敦士、廣瀬伸一
- Organizer
  第55回日本小児神経学会総会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 小児交互性片麻痺の責任遺伝子であるATP1A3の同定2013
- Author(s)
  石井敦士、佐々木征行、廣瀬伸一
- Organizer
  第474回日本小児科学会福岡地方会
- Place of Presentation
  (国内学会・シンポジウム)
- Year and Date
  2013-04-13
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 小児交互性片麻痺の責任遺伝子であるATP1A3の同定2013
- Author(s)
  石井敦士、廣瀬伸一、佐々木征行
- Organizer
  第476回福岡小児科学会地方会
- Place of Presentation
  福岡市
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 2. 小児交互性片麻痺の病因遺伝子であるATP1A3の同定と現状について2013
- Author(s)
  石井敦士、佐々木征行、廣瀬伸一
- Organizer
  第55回日本小児神経学会総会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Genetic analysis of Alternating Hemiplegia of Childhood2012
- Author(s)
  Ishii A., Saito Y., Sasaki M., Hirose S.
- Organizer
  10th European Congress of Epileptology
- Place of Presentation
  London(国際学会・シンポジウム)
- Year and Date
  2012-09-30
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Genetic analysis of Alternating Hemiplegia of Childhood2012
- Author(s)
  Atsushi Ishii, Yoshiaki Saito, Masayuki Sasaki, Shinichi Hirose
- Organizer
  10th European Congress of Epileptology
- Place of Presentation
  London
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in Japanese patients2012
- Author(s)
  Ishii A.
- Organizer
  Symposium ATP1A3 in Disease
- Place of Presentation
  Brussels, Belgium(国際学会・シンポジウム)
- Year and Date
  2012-12-11
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choleoathetosis syndrome, and benign convulsions with mild gastroenteritis2012
- Author(s)
  Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Lee WT., Kaneko S., Hirose S.
- Organizer
  2012 Korea Epilepsy Congress
- Place of Presentation
  Inchon(国際学会・シンポジウム)
- Year and Date
  2012-06-08
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choleoathetosis syndrome, and benign convulsions with mild gastroenteritis2012
- Author(s)
  Atsushi Ishii, Sawa Yasumoto, Yukiko Ihara, Takahito Inoue, Takako Fujita, Noriko Nakamura, Masaharu Ohfu, Wang-Tso Lee, Sunao Kaneko, and Shinichi Hirose
- Organizer
  2012 Korea Epilepsy Congress
- Place of Presentation
  Inchon
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 小児交互性片麻痺の分子病態の解明2012
- Author(s)
  石井敦士
- Organizer
  24-7「脳形成異常を主とする発達期障害の病因・態と治療に関する研究」22-6「発達障害の診断および治療法開に関する臨床研究」班合同シンポジウム
- Place of Presentation
  国立精神・神経医療研究センター(国内学会・シンポジウム)
- Year and Date
  2012-11-24
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in Japanese patients.2012
- Author(s)
  Atsushi Ishii
- Organizer
  Symposium ATP1A3 in Disease.
- Place of Presentation
  Belgium
- Invited
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 遺伝子研究からのてんかんの分子病態の解明を目指して2012
- Author(s)
  石井敦士
- Organizer
  第22回遺伝医学セミナー
- Place of Presentation
  ホテル阪急エキスポパーク(国内学会・シンポジウム)
- Year and Date
  2012-09-08
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 遺伝子研究からのてんかんの分子病態の解明を目指して2012
- Author(s)
  石井敦士
- Organizer
  第22回遺伝医学セミナー
- Place of Presentation
  大阪
- Invited
- Data Source
  KAKENHI-PROJECT-23791201
[Presentation] 小児交互性片麻痺の原因遺伝子を見つける意義とは
- Author(s)
  石井敦士
- Organizer
  新学術「ゲノム支援」公開シンポジウム「次世代ゲノム科学の最前線」
- Place of Presentation
  京都
- Invited
- Data Source
  KAKENHI-PROJECT-23791201
[]

1. Hirose Shinichi (60248515)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
2. 荻原郁夫 (30373286)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. TAKEDA Naoki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. MORISHITA Shinichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 松本浩

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. 柴田磨己

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
7. 宮本浩行

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 辻省次

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
9. 中村公俊

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 奥村彰久

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 倉橋宏和

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 松尾健

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
13. 宮武聡子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 川脇沙織(田中沙織)

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

ISHII Atsushi 石井 敦士

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Fundamental Research for an Innovative Drug Discovery Based on the Molecular Pathomechanisms of Refractory Epilepsy Using a Multidimensional Approach.

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Elucidating molecular network of Dravet syndrome by genetic approachesPrincipal Investigator

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The clarification of molecular pathology of alternating hemiplegia of childhood.Principal Investigator

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小児交互性片麻痺の分子病態の解明Principal Investigator

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[Journal Article] CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate2022

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[Journal Article] Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan.2022

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[Journal Article] 新生児けいれんを起こし, 遺伝子異常を認めた6症例の比較2022

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[Journal Article] Precision medicine～遺伝子変異によるてんかんとその治療～2022

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[Journal Article] The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome.2022

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[Journal Article] 神経疾患と遺伝子検索2022

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[Journal Article] Neuroanatomical considerations for optimizing thalamic deep brain stimulation in Tourette syndrome2022

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[Journal Article] Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review2022

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[Journal Article] Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.2021

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[Journal Article] PCDH19 missense and truncating variants in PCDH19-related epilepsy.2021

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[Journal Article] Current medico-psycho-social conditions of patients with West syndrome in Japan2021

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[Journal Article] Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion2020

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ISHII Atsushi 石井敦士

[Journal Article] 続編　てんかんを分かり易く理解するための神経科学　遺伝子変異2020

[Journal Article] Learning-1　てんかん2020