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Yamakawa Kazuhiro  山川 和弘

ORCIDConnect your ORCID iD *help
… Alternative Names

YAMAKAWA Kazuhiro  山川 和弘

山川 和弘  ヤマカワ カズヒロ

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Researcher Number 30241235
Other IDs
External Links
Affiliation (Current) 2025: 名古屋市立大学, 医薬学総合研究院(医学), 教授
Affiliation (based on the past Project Information) *help 2020 – 2024: 名古屋市立大学, 医薬学総合研究院(医学), 教授
2018 – 2019: 国立研究開発法人理化学研究所, 脳神経科学研究センター, チームリーダー
2017: 国立研究開発法人理化学研究所, その他, 研究員
2015 – 2017: 国立研究開発法人理化学研究所, 脳科学総合研究センター, チームリーダー
2013 – 2014: 独立行政法人理化学研究所, 脳科学総合研究センター, チームリーダー … More
2010 – 2012: 独立行政法人理化学研究所, 神経遺伝研究チーム, チームリーダー
2008: 理化学研究所, 神経遺伝研究チーム, チームリーダー
2003 – 2007: RIKEN (The Institute of Physical and Chemical Research), Lab. for Neurogenetics, Laboratory Head, 神経遺伝研究チーム, チームリーダー
2004: 理化学研究所, 神経遺伝研究チーム, チームリーダー
2002: 理化学研究所, 神経遺伝研究チーム, チームリーダー
2002: Brain Science Institute RIKEN, Laboratory head, 脳科学総合研究センター, 神経遺伝チームリーダ
2001 – 2002: 理化学研究所, 脳科学総合センター, チームリーダー
2001 – 2002: 理化学研究所, 脳科学総合研究センター, 神経遺伝チームリーダー
2000: 理化学研究所, 脳科学総合研究センター, 神経遺伝チームリーダ
1993: 財団法人癌研究會, 癌研究所・生化学部, 研究員
1992: (財)癌研究会癌研究所, 生化学部, 特別研究員PD
1992: 癌研究会癌研究所, 生化学部, 研究員 Less
Review Section/Research Field
Principal Investigator
Basic Section 51030:Pathophysiologic neuroscience-related / Pediatrics / Pediatrics / Psychiatric science / Experimental pathology
Except Principal Investigator
Neurology / Pediatrics / Psychiatric science
Keywords
Principal Investigator
てんかん / SCN2A / 遺伝子 / SMEI / ナトリウムチャネル / マウスモデル / 電位依存性ナトリウムチャネル / 神経発達症 / SCNIA / SCN1A … More / GEFS+ / Epilepsy / NifU / dual-specificity phosphatase / HIRIP5 / EPM2A / 原因遺伝子 / 環境要因 / 自閉症 / 環境との相互作用 / 発達障害 / Nav1.2 / mouse model / febrile seizures plus / modiffer / severe myoclonic epilepsy(SMEI) / sodium channel / gene / epilepsy / コンソミックマウス / 変異 / 熱性けいれんプラス / 修飾因子 / 乳児重症ミオクロニーてんかん / ナトリウムチャンネル / Patch-clamp analysis / Nonsense mutation / Genes / Sodium channel / GEFS_+ / パッチクランプ法 / ナンセンス変異 / laforin / progressive myoclonus / Lafora disease / ノックアウトマウス / 進行性ミオクローヌスてんかん / ラフォーリン / 進行性ミオクローヌス / ラフォーラ病 / TRPM2 / 上衣細胞 / EFHC1 / JME / 治療 / 疾患動物モデル / 若年ミオクロニーてんかん / 疾患モデル / 16番染色体 / 21番染色体 / 高効率 / DT40 / マウス / モデルマウス / 高効率作成 / ダウン症 … More
Except Principal Investigator
BFNC / てんかん / ADNFLE / 熱性けいれん / GEFS+ / Epilepsy / 遺伝子 / SCN1A / APC遺伝子 / クララ細胞蛋白 / 肺非小細胞癌染色体欠失 / 肺癌抑制遺伝子 / 中枢神経 / Golli / Nav1.2 / 無髄神経 / Pyrogenestic spasm / GEFS^+ / Channel disease / CEFS+ / チャネル病 / Functions of mutated epilepsy genes / Channelopathy / Febrile seizure plus / Benign adult familial myoclonic epilepsy / Benign familial neonatal convulsions / Autosomal dominant nocturnal frontal lobe epilepsy / Chorea-acanthocytosis / Severe myoclonic epilepsy in infancy / 連鎖解析 / 家系調査 / Juvenile myoclonic epilepsy / Chorein / GABA receptor / SCN2A / transporter / treatment / receptor / ion channel / CYP / polymorohism / gene / 個別化治療 / 脳神経疾愚 / 脳神経学 / 脳神経疾患 / 神経科学 / シグナル伝達 / ゲノム / 乳児重症ミオクロニーてんかん / 電位依存性Naチャネル / 乳癌 / 大腸癌 / 染色体欠失 / 癌抑制遺伝子 / HuD抗原 / L-myc RFLP / P53遺伝子変異 / 遺伝子単離 / 第三染色体短腕欠失 / 胃癌 / 遺伝性乳癌遺伝子 / リンパ節転移 / 発症前診断 / 家族性大腸腺腫症 / 臨床病理所見 / アスベスト曝露と喫煙 / アンチセンスDNA / p53遺伝子異常 / 第3染色体短腕 Less
  • Research Projects

    (16 results)
  • Research Products

    (54 results)
  • Co-Researchers

    (42 People)
  •  ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明Principal Investigator

    • Principal Investigator
      山川 和弘
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 51030:Pathophysiologic neuroscience-related
    • Research Institution
      Nagoya City University
  •  SCN2A neurodevelopmental disorders and environmentsPrincipal Investigator

    • Principal Investigator
      Yamakawa Kazuhiro
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 51030:Pathophysiologic neuroscience-related
    • Research Institution
      Nagoya City University
  •  Comprehensive analysis of unmyelinated fibers in central nervous system

    • Principal Investigator
      Nukina Nobuyuki
    • Project Period (FY)
      2017 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Neurology
    • Research Institution
      Doshisha University
  •  Epilepsy mechanism investigation and therapy developmentPrincipal Investigator

    • Principal Investigator
      Yamakawa Kazuhiro
    • Project Period (FY)
      2013 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Psychiatric science
    • Research Institution
      Institute of Physical and Chemical Research
  •  Investigation of molecular pathology of Down syndrome by high efficient systemPrincipal Investigator

    • Principal Investigator
      YAMAKAWA Kazuhiro
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Experimental pathology
    • Research Institution
      The Institute of Physical and Chemical Research
  •  Investigation of modifiers for epilepsy by using mouse modelsPrincipal Investigator

    • Principal Investigator
      YAMAKAWA Kazuhiro
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      The Institute of Physical and Chemical Research
  •  Analysis of molecular biology of epilepsy

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      2004 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (S)
    • Research Field
      Neurology
    • Research Institution
      Hirosaki University
  •  Investigation of the pathology for epileptic sodium channelopathyPrincipal Investigator

    • Principal Investigator
      YAMAKAWA Kazuhiro
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      RIKEN
  •  乳児重症ミオクロニーてんかん発症機構及び薬理学的対症法の検討

    • Principal Investigator
      菅原 隆
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      The Institute of Physical and Chemical Research
  •  Investigation of pathology for progressive myoclonus epilepsyPrincipal Investigator

    • Principal Investigator
      YAMAKAWA Kazuhiro
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      RIKEN (The Institute of Physical and Chemical Research)
  •  Genetic study of epilepsies and febrile convulsions

    • Principal Investigator
      KANEKO Sunao
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Psychiatric science
    • Research Institution
      Hirosaki University
  •  Identification of the responsible genes for child epilepsy targeting abnormalities in the pore region of ion channels expressed in the central nerve system

    • Principal Investigator
      HIROSE Shinichi
    • Project Period (FY)
      2000 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Fukuoka University
  •  肺癌の発生機序と肺癌細胞の特性ー病理組織学的・分子生物学的解析ー

    • Principal Investigator
      土屋 永寿
    • Project Period (FY)
      1991 – 1992
    • Research Category
      Grant-in-Aid for Cancer Research
    • Research Institution
      Japanese Foundation For Cancer Research
  •  肺癌の発生機序と肺癌細胞の特性-病理組織学的.分子生物学的解析-

    • Principal Investigator
      土屋 永寿
    • Project Period (FY)
      1991 – 1993
    • Research Category
      Grant-in-Aid for Cancer Research
    • Research Institution
      Japanese Foundation For Cancer Research
  •  乳癌・大腸癌における癌抑制遺伝子の単離

    • Principal Investigator
      中村 祐輔
    • Project Period (FY)
      1990 – 1992
    • Research Category
      Grant-in-Aid for Cancer Research
    • Research Institution
      Japanese Foundation For Cancer Research
  •  癌抑制遺伝子の解明

    • Principal Investigator
      中村 祐輔
    • Project Period (FY)
      1990 – 1993
    • Research Category
      Grant-in-Aid for Cancer Research
    • Research Institution
      Japanese Foundation For Cancer Research

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All Journal Article Presentation Book

  • [Book] 神経治療学 てんかんの分子遺伝学:難治てんかんの治療法開発を目指して2008

    • Author(s)
      山川 和弘
    • Total Pages
      6
    • Publisher
      羊土社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Book] Epilepsy てんかん遺伝子研究から臨床へ2008

    • Author(s)
      山川 和弘, 他
    • Total Pages
      7
    • Publisher
      メディカルレビュー社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Book] 脳と発達2007

    • Author(s)
      山川 和弘
    • Total Pages
      3
    • Publisher
      日本小児神経学会
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Book] International Epilepsy News てんかんと遺伝子2007

    • Author(s)
      山川 和弘
    • Total Pages
      2
    • Publisher
      国際てんかん協会
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Book] International Epilepsy News2007

    • Author(s)
      山川 和弘
    • Total Pages
      2
    • Publisher
      国際てんかん協会
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Book] 実験医学(増刊) てんかん=チャネロパチー?2007

    • Author(s)
      山川 和弘
    • Total Pages
      8
    • Publisher
      羊土社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Book] 実験医学(増刊)2007

    • Author(s)
      山川 和弘
    • Total Pages
      8
    • Publisher
      羊土社
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] Inversed Effects of Nav1.2 Deficiency at Medial Prefrontal Cortex and Ventral Tegmental Area for Prepulse Inhibition in Acoustic Startle Response2023

    • Author(s)
      Suzuki Toshimitsu、Hattori Satoko、Mizukami Hiroaki、Nakajima Ryuichi、Hibi Yurina、Kato Saho、Matsuzaki Mahoro、Ikebe Ryu、Miyakawa Tsuyoshi、Yamakawa Kazuhiro
    • Journal Title

      Molecular Neurobiology

      Volume: 61 Issue: 2 Pages: 622-634

    • DOI

      10.1007/s12035-023-03610-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K07620, KAKENHI-PROJECT-23K05860, KAKENHI-PROJECT-22H04922, KAKENHI-PROJECT-23K27490
  • [Journal Article] Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons2023

    • Author(s)
      Yamagata Tetsushi、Ogiwara Ikuo、Tatsukawa Tetsuya、Suzuki Toshimitsu、Otsuka Yuka、Imaeda Nao、Mazaki Emi、Inoue Ikuyo、Tokonami Natsuko、Hibi Yurina、Itohara Shigeyoshi、Yamakawa Kazuhiro
    • Journal Title

      eLife

      Volume: 12

    • DOI

      10.7554/elife.87495

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K06830, KAKENHI-PROJECT-23K27490
  • [Journal Article] Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity2019

    • Author(s)
      Tatsukawa Tetsuya、Raveau Matthieu、Ogiwara Ikuo、Hattori Satoko、Miyamoto Hiroyuki、Mazaki Emi、Itohara Shigeyoshi、Miyakawa Tsuyoshi、Montal Mauricio、Yamakawa Kazuhiro
    • Journal Title

      Molecular Autism

      Volume: 10 Issue: 1 Pages: 1-15

    • DOI

      10.1186/s13229-019-0265-5

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07577, KAKENHI-PROJECT-17H01564, KAKENHI-PROJECT-16H06276
  • [Journal Article] Impaired cortico-striatal excitatory transmission triggers epilepsy2019

    • Author(s)
      Miyamoto Hiroyuki、Tatsukawa Tetsuya、Shimohata Atsushi、Yamagata Tetsushi、Suzuki Toshimitsu、Amano Kenji、Mazaki Emi、Raveau Matthieu、Ogiwara Ikuo、Oba-Asaka Atsuko、Hensch Takao K.、Itohara Shigeyoshi、Sakimura Kenji、Kobayashi Kenta、Kobayashi Kazuto、Yamakawa Kazuhiro
    • Journal Title

      Nature Communications

      Volume: 10 Issue: 1 Pages: 1917-1917

    • DOI

      10.1038/s41467-019-09954-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H01564, KAKENHI-PROJECT-18K06535, KAKENHI-PROJECT-18K07577, KAKENHI-PROJECT-19K08284, KAKENHI-PROJECT-18H02540, KAKENHI-PROJECT-18H02545
  • [Journal Article] Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy2018

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

      New England Journal of Medicine

      Volume: 378 Issue: 11 Pages: 1018-1028

    • DOI

      10.1056/nejmoa1700175

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25253073, KAKENHI-PROJECT-18K07577, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-16K15532
  • [Journal Article] Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice2018

    • Author(s)
      Ogiwara Ikuo、Miyamoto Hiroyuki、Tatsukawa Tetsuya、Yamagata Tetsushi、Nakayama Tojo、Atapour Nafiseh、Miura Eriko、Mazaki Emi、Ernst Sara J.、Cao Dezhi、Ohtani Hideyuki、Itohara Shigeyoshi、Yanagawa Yuchio、Montal Mauricio、Yuzaki Michisuke、Inoue Yushi、Hensch Takao K.、Noebels Jeffrey L.、Yamakawa Kazuhiro
    • Journal Title

      Communications Biology

      Volume: 1 Issue: 1 Pages: 1-16

    • DOI

      10.1038/s42003-018-0099-2

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07577, KAKENHI-PROJECT-17H01564
  • [Journal Article] EFHC1 variants in Juvenile Myoclonic Epilepsy: Reanalysis according to NHGRI and ACMG Guidelines for assigning disease causality2016

    • Author(s)
      Bailey JN, Patterson C, de Nijs L, Duron RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martinez-Juarez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV.
    • Journal Title

      Genetics in Medicine

      Volume: 19 Issue: 2 Pages: 144-156

    • DOI

      10.1038/gim.2016.86

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25253073
  • [Journal Article] Towards the understanding of Down syndrome using mouse models2012

    • Author(s)
      K.Yamakawa
    • Journal Title

      Congenital anomalies

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390078
  • [Journal Article] Towards the understanding of Down syndrome using mouse models2012

    • Author(s)
      Kazuhiro Yamakawa
    • Journal Title

      Congenital Anomalies

      Volume: 52 Issue: 2 Pages: 67-71

    • DOI

      10.1111/j.1741-4520.2012.00367.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390078
  • [Journal Article] Towards the understanding of Down syndrome using mouse models.2012

    • Author(s)
      Yamakawa K
    • Journal Title

      Congenital Anomalies

      Volume: 52 Pages: 67-71

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390078
  • [Journal Article] Efhcl deficiency causes spontaneous myoclonus and increasedse izure susceptibility2009

    • Author(s)
      Suzuki T, Miyamoto H, Nakahari T, Inoue I, Suemoto T, Jiang B, Hirota Y, Itohara S, Saido TC, Tsumoto T, Sawamoto K, Hensch TK, Delgado-Escueta AV, and Yamakawa K.
    • Journal Title

      Hum. Mol Genet 18(6)

      Pages: 1099-1109

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] DSCAM deficiency causes loss of pre-inspiratoru neuron synchroneity and perinatal death2009

    • Author(s)
      Amano K, Fujii M, Arata S, Tojima T, Ogawa M, Shimohata A, Furuichi T, Itohara S, Kamiguchi H, Korenberg J. R, Arata A, Yamakawa K.
    • Journal Title

      J Neurosci 29(9)

      Pages: 2984-96

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Novel mutations in Myoclonin1/EFHC1 in sporadic and tamilial juvenile myoclonic epilepsy2008

    • Author(s)
      Medina MT, Suzuki T, Alonso ME, Duron RM, Matinaz IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, and Deidacio-Escueta AV.
    • Journal Title

      Neurology 70(22)

      Pages: 2137-44

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features2008

    • Author(s)
      Miyama S, Goto T, Inoue Y, Yamakawa K.
    • Journal Title

      Pediat Neurol 39(2)

      Pages: 120-2

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder2008

    • Author(s)
      Amano K, Yamada K, Iwayama Y, Detera-Wadleigh SD, Hattori E, Toyota T, Tokunaga K, Yoshikawa T, Yamakawa K.
    • Journal Title

      Psychiatr Genet 18

      Pages: 1-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Sequential expression of Efhcl/myocloninl in choroid plexus and ependymal cell cilia2008

    • Author(s)
      Suzuki T, Inoue I, Yamagata T, Morita N, Furuichi T, Yamakawa K.
    • Journal Title

      Biochem Biophys Res Commun 367

      Pages: 226-33

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Novel mutations in Myocloninl/EFHC1 in sporadic and tamilial juvenile myoclonic epilepsy2008

    • Author(s)
      Medina MT, Suzuki T, Alonso ME, Duron RM, Matinaz IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, and Deidacio-Escueta AV.
    • Journal Title

      Neurology 70(22 pt 2)

      Pages: 2137-44

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutation analysis of CACNA1G in idiopathic generalized epilepsy.2007

    • Author(s)
      Singh B, Monteil A, Bidaud I, Sugomoto Y, Suzuki T, Hamano S, Oguni H, Osawa M, Alonso ME, Eseueta AD, Inoue Y, Yasui=Furukori N, Kaneko S, Lory K, Yamakawa K
    • Journal Title

      Hum Mutat (in press)

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962.Online2007

    • Author(s)
      Singh B, Monteil A, Bidaud I, Sugimoto Y, Suzuki T, Hamano S, Oguni H, Osawa M, Alonso ME, Delgado-Escueta AV, Inoue Y, Yasui-Furukori N, Kaneko S, Lory P Yamakawa K.
    • Journal Title

      Hum Mutat 28(5)

      Pages: 524-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.2007

    • Author(s)
      Osaka, H., Ogiwara, I. Mazaki, F., Okamura, N., Yamashita, S., Iai, M., Yamada, M., Kurosawa, K., Iwamoto, H., Yasui-Furukori, N., Kaneko. S., Fujisawa, T., Inoue, Y. & Yamakawa, K.
    • Journal Title

      Epilepsy Res 75(1)

      Pages: 46-51

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in beief #962. Online.2007

    • Author(s)
      Singh, B., Monteil, A., Bidaud, I., Sugimoto, Y., Suzuki, T., Hamano, S., Oguni, H., Osawa, M., Alonso, ME., Delgada-Escueta, AV., Inoue, Y., Yasui-Furukori, N., Kaneko, S., Lory, P. & Yamakawa, K.
    • Journal Title

      Hum Mutat 28(5)

      Pages: 524-525

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons : a Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation2007

    • Author(s)
      Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K.
    • Journal Title

      J Neurosc 27(22)

      Pages: 5903-14

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

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

      Epilepsy Res 28(3)

      Pages: 308-311

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

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

      J Hum Genet 50

      Pages: 347-352

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline2005

    • Author(s)
      Rhodes T.H., Vanoye C.G., Ohmori I., Ogiwara I., Yamakawa K., George A.L.Jr.
    • Journal Title

      Journal of Physiology 569

      Pages: 433-445

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591068
  • [Journal Article] Identification of the gene responsible for juvenile myoclonic epilepsy.2005

    • Author(s)
      Suzuki T, Delgado-Escueta VA, Aguan K, Shi J, Hara Y, Nishida M, Numata T, Takeuchi T, Bai D, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K
    • Journal Title

      Epilepsia 46(Suppl 3)

      Pages: 15-16

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures2005

    • Author(s)
      Nagao Y., Mazaki E., Okamura N., Takagi M., Igarashi T., Yamakawa K.
    • Journal Title

      Epilepsy Research 63

      Pages: 151-156

    • NAID

      10019356436

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591068
  • [Journal Article] A family of generalized epilepsy with febrile seizures plus type 2 - a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures2005

    • Author(s)
      Kimura K., Sugawara T., Mazaki E., Hoshino K., Nomura Y., Tateno A., Hachimori K., Yamakawa K., Segawa M.
    • Journal Title

      Brain and Development 27

      Pages: 424-430

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591068
  • [Journal Article] Sodium Channel Dysfunction in Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures2004

    • Author(s)
      Kamiya K., Kaneda M., Sugawara T., Mazaki E., Okamura N., Montal M., Makita N., Tanaka M., Fukushima K., Fujiwara T., Inoue Y, Yamakawa K.
    • Journal Title

      J.Neurosci. 24

      Pages: 2690-2698

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16591068
  • [Journal Article] Mutation in EFHC1 cause juvenile myoclonic epilepsy.2004

    • Author(s)
      Suzuki T, Yamakawa K, Kaneko S, et al.
    • Journal Title

      Nature Genet 36/8

      Pages: 842-849

    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.2004

    • Author(s)
      Kamiya K, Yamakawa K, et al.
    • Journal Title

      J.Neurosci. 24

      Pages: 2690-2698

    • Data Source
      KAKENHI-PROJECT-16591068
  • [Journal Article] Mutations in EFHC1 cause juvenile myoclonic epilepsy2004

    • Author(s)
      Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, OchoaA, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, and Yamakawa K.
    • Journal Title

      Nat Genet 36(8)

      Pages: 842-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] (2007) Epilepsy=Chennelopathy ? Experimental

    • Author(s)
      Yamakawa K.
    • Journal Title

      Medicine 25(13)

      Pages: 185-192

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] a Circuit Basis for Epileptic Seizures in Mice Carrying an Scnla Gene Mutation.

    • Author(s)
      Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K.(2007) Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons
    • Journal Title

      Journal of Neuroscience 27(22)

      Pages: 5903-5914

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] (2007) Na channel gene mutations and epilepsymouse models

    • Author(s)
      Yamakawa K.
    • Journal Title

      Brain & Development 39(3)

      Pages: 171-173

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] From epilepsy genetics to clinical application

    • Author(s)
      Yamakawa K., et. al.
    • Journal Title

      Epilepsy Research 26(1)

      Pages: 25-28

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] (2007)Epilepsy and Gene

    • Author(s)
      Yamakawa. K
    • Journal Title

      International Epilepsy News 161

      Pages: 10-11

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] DNA variants in coding region of EFHC1 : SNPs do not associate with juvenile myoclonic epilepsy

    • Author(s)
      Bai D, Bailey JN, Duron RM, Alonso ME, Medina MT, Martinez-Juarez IE, Suzuki T, Machado-Salas J, Ramos-Ramirez R, Tanaka M, Ortega RH, Lopez-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV.
    • Journal Title

      Epilepsia (Epub ahead of print)(掲載確定)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16109006
  • [Journal Article] (2008) Moleculaar Genetics of Epilepsy Towards the development of effective therapy for intractable epilepsy

    • Author(s)
      Yamakawa K.
    • Journal Title

      Neurothrapeutics 25(2)

      Pages: 139-144

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Journal Article] Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

    • Author(s)
      Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa, K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K.(2007)
    • Journal Title

      Epilepsy Research 75

      Pages: 46-51

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591174
  • [Presentation] てんかん・自閉症の発症機序:SCN1A, SCN2A, STXBP12021

    • Author(s)
      山川和弘
    • Organizer
      脳の医学生物学研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03566
  • [Presentation] Molecular genetics of epilepsy and autism: Model studies for SCN1A, SCN2A, STXBP12021

    • Author(s)
      Kazuhiro YAMAKAWA
    • Organizer
      Xiangya International Pediatric Neurology Forum
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03566
  • [Presentation] てんかんと発達障害の分子遺伝学2021

    • Author(s)
      山川和弘
    • Organizer
      茨城てんかん懇話会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03566
  • [Presentation] てんかんと自閉症の本態を探る2020

    • Author(s)
      山川和弘
    • Organizer
      第62回日本小児神経学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-20H03566
  • [Presentation] てんかんと自閉症の本態を探る2020

    • Author(s)
      山川和弘
    • Organizer
      第62回日本小児神経学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17H01564
  • [Presentation] A novel unmyelinated fiber projection to substantia nigra2020

    • Author(s)
      宮﨑晴子、立川哲也、山川和弘、貫名信行
    • Organizer
      第43回日本神経科学大会, web開催
    • Data Source
      KAKENHI-PROJECT-17H01564
  • [Presentation] 動物モデルでダウン症はどこまで解明できたのか?2011

    • Author(s)
      Yamakawa K.
    • Organizer
      第51回日本先天異常学会年会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22390078
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    # of Collaborated Products: 2 results
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  • 7.  WAKABAYASHI Koichi (50240768)
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  • 8.  MITSUDOME Akihisa (30038749)
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  • 12.  堀井 明 (40249983)
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  • 13.  OKADA Motohiro (10281916)
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    # of Collaborated Products: 0 results
  • 14.  YASUI-FURUKORI Norio (20333734)
    # of Collaborated Projects: 1 results
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  • 15.  SHIMIZU Toshio (00110750)
    # of Collaborated Projects: 1 results
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  • 16.  KOJIMA Toshio (00311340)
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  • 17.  UENO Shinya (00312158)
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  • 18.  FUKUSAWA Masashi (10231557)
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  • 19.  NAKAGAWA Kazuko (20284747)
    # of Collaborated Projects: 1 results
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  • 20.  KUWANO Ryozo (20111734)
    # of Collaborated Projects: 1 results
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  • 21.  ARAKI Kimi (90211705)
    # of Collaborated Projects: 1 results
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  • 22.  SANO Akira (30178800)
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  • 23.  ITO Masatoshi (90135567)
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  • 24.  OGIWARA Ikuo (30373286)
    # of Collaborated Projects: 1 results
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  • 25.  YAMAGATA Tetsshi (00338766)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 26.  Nukina Nobuyuki (10134595)
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    # of Collaborated Products: 1 results
  • 27.  鈴塚 五郎 (00125923)
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  • 28.  横田 淳 (10191503)
    # of Collaborated Projects: 1 results
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  • 29.  谷上 信 (60227212)
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  • 30.  佐藤 孝明 (30225958)
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  • 31.  河嶋 和子 (60177673)
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  • 32.  井内 康輝 (20116536)
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  • 33.  江見 充 (90221118)
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  • 35.  大沼 悌一 (30003536)
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  • 36.  杉山 博之 (20124224)
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  • 37.  宮崎 晴子 (80525890)
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  • 38.  SUZUKI Toshimitsu
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    # of Collaborated Products: 3 results
  • 39.  下畑 充志
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  • 40.  天野 賢治
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  • 41.  浅田 幸江
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  • 42.  宮本 浩行
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