• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Molecular pathology of epilepsy associated with mutations of voltage-gated sodium channel gene

Research Project

Project/Area Number 21791020
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionThe Institute of Physical and Chemical Research

Principal Investigator

OGIWARA Ikuo  The Institute of Physical and Chemical Research, 神経遺伝研究チーム, 研究員 (30373286)

Project Period (FY) 2009 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2009: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywordsてんかん / ナトリウムチャネル遺伝子 / 抑制性神経細胞 / 興奮性神経細胞 / 脳・神経 / 神経科学 / 脳神経疾患 / 電位依存性ナトリウムチャネル
Research Abstract

Mutations in SCN1A gene encoding voltage-gated sodium channel α1, Na_v1.1, cause severe myoclonic epilepsy in infancy (SMEI, also known as Dravet syndrome). We here demonstrated that selective Na_v1.1 elimination in inhibitory neurons was sufficient to trigger epileptic seizures a. In contrast, selective Na_v1.1 elimination in excitatory neurons did not result in epileptic seizures. The results indicate that altered functions of the inhibitory circuits predominantly contributed to epileptic seizures in mice, in good agreement with our hypothesis proposed previously.

Report

(3 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • Research Products

    (22 results)

All 2010 2009 Other

All Journal Article (4 results) (of which Peer Reviewed: 4 results) Presentation (17 results) Remarks (1 results)

  • [Journal Article] Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.2010

    • Author(s)
      Nakayama T, Ogiwara I(共筆頭著者), Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K.
    • Journal Title

      Human Mutation 31(7)

      Pages: 820-829

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Deletions of SCN1A 5' Genomic Region with Promoter Activity in Dravet Syndrome2010

    • Author(s)
      Nakayama T.
    • Journal Title

      Human Mutation

      Volume: 31 Pages: 820-829

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies.2009

    • Author(s)
      Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.
    • Journal Title

      Neurology 73(13)

      Pages: 1046-1053

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] De novo mutations of voltage-gated sodium channel α_<II> gene SCN2Z in intractable epilepsies2009

    • Author(s)
      Ogiwara, I.
    • Journal Title

      Neurology 73

      Pages: 1046-1053

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Scn1a-GFP BAC transgenic mouse lines showed predominant expression of Nav1.1 in parvalbumin-positive interneurons2010

    • Author(s)
      Ogiwara I, Tokonami N, Mazaki E,Inoue I, Yamakawa K.
    • Organizer
      Neuroscience 2010
    • Place of Presentation
      米国San Diego市
    • Year and Date
      2010-11-14
    • Related Report
      2010 Final Research Report
  • [Presentation] Scn1a-GFP BAC transgenic mouse lines showed predominant expression of Nav1.1 in parvalbumin-positive interneurons2010

    • Author(s)
      Ogiwara I.
    • Organizer
      Neuroscience 2010
    • Place of Presentation
      San Diego, CA, USA
    • Year and Date
      2010-11-14
    • Related Report
      2010 Annual Research Report
  • [Presentation] 電位依存性ナトリウムチャネルα2遺伝子とてんかん2010

    • Author(s)
      荻原郁夫、中山東城、真崎恵美、井上育代、伊藤公一、金田誠、宮本浩行、Takao K. Hensch、沢石由記夫、小坂仁、藤原建樹、井上有史、山川和弘
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      埼玉県大宮市
    • Year and Date
      2010-10-30
    • Related Report
      2010 Annual Research Report 2010 Final Research Report
  • [Presentation] 難治てんかんに認められたde novo電位依存性ナトリウムチャネルα2(SCN2A)遺伝子変異2010

    • Author(s)
      荻原郁夫、真崎恵美、井上育代、伊藤公一、金田誠、沢石由記夫、小坂仁、藤原建樹、井上有史、山川和弘
    • Organizer
      第44回日本てんかん学会
    • Place of Presentation
      岡山県岡山市
    • Year and Date
      2010-10-14
    • Related Report
      2010 Final Research Report
  • [Presentation] 難治てんかんに認められたde nova電位依存性ナトリウムチャネルα2(SCN2A)遺伝子変異2010

    • Author(s)
      荻原郁夫
    • Organizer
      第44回日本てんかん学会
    • Place of Presentation
      岡山県岡山市
    • Year and Date
      2010-10-14
    • Related Report
      2010 Annual Research Report
  • [Presentation] Scn1a mice exhibit hyperactivity, autism-like behavioral deficits and learning impairments2010

    • Author(s)
      Ogiwara I, Ito S, Yamada K, Yamakawa K.
    • Organizer
      Neuro 2010
    • Place of Presentation
      兵庫県神戸市
    • Year and Date
      2010-09-02
    • Related Report
      2010 Annual Research Report 2010 Final Research Report
  • [Presentation] Analysis of SCN1A expression using BAC transgenic mice2010

    • Author(s)
      Ogiwara I, Tokonami N, Mazaki E, Yamakawa K.
    • Organizer
      2010 Gordon Conference on Mechanisms of Epilepsy and Neuronal Synchronization
    • Place of Presentation
      米国Waterville市
    • Year and Date
      2010-08-11
    • Related Report
      2010 Final Research Report
  • [Presentation] Analysis of SCN1A expression using BAC transgenic mice2010

    • Author(s)
      Ogiwara I.
    • Organizer
      2010 Gordon Conference on Mechanisms of Epilepsy and Neuronal Synchronization
    • Place of Presentation
      Waterville, ME, USA
    • Year and Date
      2010-08-11
    • Related Report
      2010 Annual Research Report
  • [Presentation] 電位依存性ナトリウムチャネルβ1(SCN1B)遺伝子にホモ接合型変異を認めたDravet症候群1例2010

    • Author(s)
      荻原郁夫、中山東城、芳村勝城、藤原建樹、井上有史、山川和弘
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡県福岡市
    • Year and Date
      2010-05-21
    • Related Report
      2010 Final Research Report
  • [Presentation] 電位依存性ナトリウムチャネルβ1(SCN1B)遺伝子にホモ接合型変異を認めたDravet症候群1症例2010

    • Author(s)
      荻原郁夫
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡県福岡市
    • Year and Date
      2010-05-21
    • Related Report
      2010 Annual Research Report
  • [Presentation] Analysis of alternative promoters of voltage-gated Na^+ channelα_I gene2009

    • Author(s)
      Ogiwara I, Ito K, Mazaki E, Kaneda M, Yamakawa K.
    • Organizer
      Neuroscience 2009
    • Place of Presentation
      米国Chicago市
    • Year and Date
      2009-10-18
    • Related Report
      2010 Final Research Report
  • [Presentation] Analysis of alternative promoters of voltage-gated Na^+ channel α_I gene2009

    • Author(s)
      荻原郁夫
    • Organizer
      Neuroscience 2009
    • Place of Presentation
      米国 Chicago 市
    • Year and Date
      2009-10-18
    • Related Report
      2009 Annual Research Report
  • [Presentation] マウス小脳プルキンエ細胞における電位依存性ナトリウムチャネルα1遺伝子の発現解析2009

    • Author(s)
      荻原郁夫、伊藤公一、真崎恵美、金田誠、山川和弘
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京都港区
    • Year and Date
      2009-09-24
    • Related Report
      2010 Final Research Report 2009 Annual Research Report
  • [Presentation] Analysis of voltage-gated sodium channelα1 expression using BAC transgenic mice2009

    • Author(s)
      Ogiwara I, Mazaki E, Itohara S, Yamakawa K.
    • Organizer
      第32回日本神経科学大会
    • Place of Presentation
      愛知県名古屋市
    • Year and Date
      2009-09-18
    • Related Report
      2010 Final Research Report
  • [Presentation] Analysis of voltage-gated sodium channel α1 expression using BAC transgenic mice2009

    • Author(s)
      荻原郁夫
    • Organizer
      第32回日本神経科学大会
    • Place of Presentation
      愛知県名古屋市
    • Year and Date
      2009-09-18
    • Related Report
      2009 Annual Research Report
  • [Presentation] 難治性乳幼児てんかんに認められたde novo電位依存性ナトリウムチャネルα2遺伝子変異2009

    • Author(s)
      荻原郁夫、沢石由記夫、小坂仁、藤原建樹、井上有史、山川和弘
    • Organizer
      第51回日本小児神経学会総会
    • Place of Presentation
      鳥取県米子市
    • Year and Date
      2009-05-29
    • Related Report
      2010 Final Research Report
  • [Presentation] 難治性乳幼児てんかんに認められた de novo 電位依存性ナトリウムチャネルα2遺伝子変異2009

    • Author(s)
      荻原郁夫
    • Organizer
      第51回日本小児神経学会総会
    • Place of Presentation
      鳥取県米子市
    • Year and Date
      2009-05-29
    • Related Report
      2009 Annual Research Report
  • [Remarks] ホームページ等

    • Related Report
      2010 Final Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi