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Molecular mechanism of loss-of-function SCN1A mutations associated with epilepsy

Research Project

Project/Area Number 18591154
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionOkayama University

Principal Investigator

OOMORI Iori  Okayama University, 大学院・医歯薬学総合研究科, 助教 (20403488)

Co-Investigator(Kenkyū-buntansha) MATSUI Hideki  岡山大学, 大学院・医歯薬学総合研究科, 教授 (30157234)
OUCHIDA Mamoru  岡山大学, 大学院・医歯薬学総合研究科, 准教授 (80213635)
Project Period (FY) 2006 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥3,850,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥450,000)
Fiscal Year 2008: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2007: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2006: ¥1,900,000 (Direct Cost: ¥1,900,000)
Keywords精神 / 神経疾患の病態と治療 / 小児神経学 / 神経分子病態学 / てんかん / 電位依存性ナトリウムチャネル / パッチクランプ法 / ナトリウムチャネル
Research Abstract

難治てんかんの一種である乳児重症ミオクロニーてんかんに認められる電位依存性ナトリウムチャネル・1サブユニット(Na_v1.1)をコードするSCN1A遺伝子変異をもとに、その機能喪失メカニズムを解明した。変異の種類により、蛋白は合成されているが細胞膜へ移行できない障害とチャネル蛋白は膜に移行してきているがナトリウムイオンを透過することができない障害があることが推測された。蛋白が細胞膜へ移行できないある種の変異については、抗てんかん薬によって膜への移行が促進されることが分かった。これらの知見は、てんかん患者の遺伝子情報から、効果の高い治療薬を選択するテーラーメイド治療の開発に資することができると思われる。

Report

(4 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report
  • 2006 Annual Research Report
  • Research Products

    (46 results)

All 2008 2007 2006 Other

All Journal Article (14 results) (of which Peer Reviewed: 10 results) Presentation (24 results) Remarks (3 results) Patent(Industrial Property Rights) (5 results)

  • [Journal Article] Rasmussen encephalitis associated with SCN1A mutation2008

    • Author(s)
      Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y
    • Journal Title

      Epilepsia 49

      Pages: 521-526

    • NAID

      120006765094

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] (Corresponding author). A Screening test for the prediction of Dravet syndrome before one year of age2008

    • Author(s)
      Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I
    • Journal Title

      Epilepsia 49

      Pages: 626-633

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy2008

    • Author(s)
      Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka S, Nishiki T, Tomizawa K, Mori Y, Matsui H
    • Journal Title

      Neurobiol Dis 32

      Pages: 349-354

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Rasmussen encephalitis associated with SCNIA mutation.2008

    • Author(s)
      Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y.
    • Journal Title

      Epilepsia 49

      Pages: 521-526

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Screening test for the prediction of Dravet syndrome before one year of age.2008

    • Author(s)
      Hattori J, Ouchida M, Ono I, Miyake S, Maniwa s, Minaki N, Ohlsuka Y, Ohmori I.
    • Journal Title

      Epilepsia 49

      Pages: 626-633

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.2008

    • Author(s)
      Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka s, Nishiki T, Tomizawa K, Mori Y, Matsui H.
    • Journal Title

      Neurobiol Dis 32

      Pages: 349-354

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Screening test for the prediction of Dravet syndrome before one year of age.2008

    • Author(s)
      Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I.
    • Journal Title

      Epilepsia (印刷中)

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Rasmussen encephalitis associated with SCN1A mutation.2008

    • Author(s)
      Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, Matsui H, Ohtsuka Y, Maegaki Y.
    • Journal Title

      Epilepsia 49

      Pages: 521-526

    • NAID

      120006765094

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 乳児重症ミオクロニーてんかんとその辺縁てんかん症候群におけるSCN1A遺伝子異常2007

    • Author(s)
      大内田守、大守伊織
    • Journal Title

      てんかん治療研究振興財団研究年報 第18集

      Pages: 13-19

    • Related Report
      2008 Final Research Report
  • [Journal Article] Truncations of amphiphysin I by calpain inhibit vesicle endocytosis during neural hyperexcitation2007

    • Author(s)
      Wu Y, Liang S, Oda Y, Ohmori I, Nishiki T, Takei K, Matsui H, Tomizawa K
    • Journal Title

      EMBO J 26

      Pages: 2981-90

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] 乳児重症ミオクロニーてんかんとその辺縁てんかん症候群におけるSCN1A遺伝子異常.2007

    • Author(s)
      大内田守、大守伊織.
    • Journal Title

      てんかん治療研究振興財団研究年報 18

      Pages: 13-19

    • Related Report
      2007 Annual Research Report
  • [Journal Article] 乳児重症ミオクロニーてんかんにおける変異遺伝子の検索と変異型イオンチャネルの機能解析2006

    • Author(s)
      大内田守、大守伊織、大塚頌子
    • Journal Title

      てんかん治療研究振興財団研究年報 第17集

      Pages: 55-62

    • Related Report
      2008 Final Research Report
  • [Journal Article] Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy2006

    • Author(s)
      Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George AL Jr
    • Journal Title

      Epilepsia 47

      Pages: 1636-42

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy2006

    • Author(s)
      Iori Ohmori
    • Journal Title

      Epilepsia 47(10)

      Pages: 1636-1642

    • Related Report
      2006 Annual Research Report
  • [Presentation] Pharmacological effects of antiepileptic drugs on mutant Nav1.1 channels associated with epilepsy2008

    • Author(s)
      Ohmori I, Matsushita H, Nishiki T, Tomizawa K, Matsui H.
    • Organizer
      第31回日本神経科学大会
    • Place of Presentation
      東京
    • Related Report
      2008 Final Research Report
  • [Presentation] 乳児重症ミオクロニーてんかんの早期診断スクリーニングテスト2008

    • Author(s)
      大守伊織、服部旬里、大内田守、真庭聡、御牧信義、三宅進、大塚頌子
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report 2008 Final Research Report
  • [Presentation] 前垣義弘.SCN1A 変異を認めた Rasmussen 脳炎の1例2008

    • Author(s)
      小林勝弘、大守伊織、大内田守、井上拓志、大塚頌子
    • Organizer
      第50回 日本小児神経学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Final Research Report
  • [Presentation] A patient with Rasmussen encephalitis and SCN1A mutation2008

    • Author(s)
      Kobayashi K, Ohmori I, Ouchida M, Inoue T, Maegaki Y, Jitsumori Y, Matsui H, Shimizu K, Ohtsuka Y
    • Organizer
      The 11th Annual Meeting of Infantile Seizure Society
    • Place of Presentation
      Otsu
    • Related Report
      2008 Final Research Report
  • [Presentation] Risk factors for the prediction of Dravet syndrome before one year of age2008

    • Author(s)
      Ohmori I, Hattori J, Ouchida M, Ono J, Miyake S, Mimaki N, Ohtsuka Y
    • Organizer
      The 11^<th> Annual Meeting of Infantile Seizure Society
    • Place of Presentation
      Otsu
    • Related Report
      2008 Final Research Report
  • [Presentation] SCNIA変異を認めたRasmussen脳炎の1例2008

    • Author(s)
      小林勝弘, 大守伊織, 大内田守, 井上拓志, 大塚頌子, 前垣義弘.
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report
  • [Presentation] Pharmacological effects of antiepileptic drugs on mutant Navl. l channels associated with epilepsy.2008

    • Author(s)
      Ohmori I, Matsushita H, Nishiki T, Tomizawa K, Matsui H.
    • Organizer
      第31回日本神経科学大会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report
  • [Presentation] Risk factors tor the prediction of Dravet syndrome before one year of age.2008

    • Author(s)
      Ohmori I, Hattori J, Ouchida M, Ono J, Miyake s, Mimaki N, Ohtsuka Y.
    • Organizer
      The nth Annual Meeting of Infantile Seizure Society.
    • Place of Presentation
      Otsu
    • Related Report
      2008 Annual Research Report
  • [Presentation] A patient with Rasmussen encephalitis and SCNIA mutation. The 11th Annual M2008

    • Author(s)
      Kobayashi K, Ohmori I, Ouchida M, Inoue T, Maegaki Y, Jitsumori Y, Matsui H, Shinizu K, Ohtsuka Y.
    • Organizer
      The 11th Annual Meeting of Infantile Seizure Society.
    • Place of Presentation
      Otsu
    • Related Report
      2008 Annual Research Report
  • [Presentation] SCN1A missense mutation associated with infantile partial epilepsy2007

    • Author(s)
      OhmoriI, Ouchida M, Kobayashi K, Ohtsuka Y, Shimizu K, Nishiki T, Tomizawa K, Matsui H
    • Organizer
      The 30^<th> Annual Meeting of the Japan Neuroscience Society
    • Place of Presentation
      Yokohama
    • Related Report
      2008 Final Research Report
  • [Presentation] Trafficking defective SCN1A mutations associated with epilepsy2007

    • Author(s)
      Ohmori I, Ouchida M, Nishiki T, Tomizawa K, Matsui H
    • Organizer
      The 7^<th> International Brain Research Organization
    • Place of Presentation
      Melbourne, Australia
    • Related Report
      2008 Final Research Report
  • [Presentation] てんかん関連性ナトリウムチャネル異常の機能喪失機序2007

    • Author(s)
      大守伊織、大内田守
    • Organizer
      第49回 日本小児神経学会総会
    • Place of Presentation
      大阪
    • Related Report
      2008 Final Research Report
  • [Presentation] 熱性痙攣のSCN1A遺伝子異常2007

    • Author(s)
      大内田守、大野順子、大守伊織、服部旬里、三宅進、真庭聡、御牧信義、大塚頌子
    • Organizer
      第49回 日本小児神経学会総会
    • Place of Presentation
      大阪
    • Related Report
      2008 Final Research Report
  • [Presentation] SCN1A遺伝子変異I1616Tの臨床型2007

    • Author(s)
      服部旬里、御牧信義、大守伊織、大野順子、大内田守、大塚頌子
    • Organizer
      第49回 日本小児神経学会総会
    • Place of Presentation
      大阪
    • Related Report
      2008 Final Research Report
  • [Presentation] Nonfunctional SCN1A is common in severe myoclonic epilepsy in infancy2007

    • Author(s)
      Ohmori I, Kahlig KM, Rhodes TH, Wang DW, Ouchida M, Matsui H, George AL
    • Organizer
      The 10^<th> Annual Meeting of Infantile Seizure Society
    • Place of Presentation
      Tokyo
    • Related Report
      2008 Final Research Report
  • [Presentation] Trafficking defective SCN1A mutations associated with epilepsy.2007

    • Author(s)
      Ohmori I, 0uchida M, Nishiki T, Tomizawa K, Matsui H.
    • Organizer
      The 7th International Brain Research Organization.
    • Place of Presentation
      Melbourne, Australia.
    • Related Report
      2007 Annual Research Report
  • [Presentation] てんかん関連性ナトリウムチャネル異常の機能喪失機序2007

    • Author(s)
      大守伊織、大内田守.
    • Organizer
      第49回日本神経学会総会
    • Place of Presentation
      大阪
    • Related Report
      2007 Annual Research Report
  • [Presentation] 熱性痙攣のSCN1A遺伝子異常2007

    • Author(s)
      大内田守、大野順子、大守伊織、服部旬里、三宅進、真庭聡、御牧信義、大塚頌子.
    • Organizer
      第49回日本神経学会総会
    • Place of Presentation
      大阪
    • Related Report
      2007 Annual Research Report
  • [Presentation] SCN1A遺伝子変異I1616Tの臨床型2007

    • Author(s)
      服部旬里、御牧信義、大守伊織、大野順子、大内田守、大塚頒子.
    • Organizer
      第49回日本神経学会総会
    • Place of Presentation
      大阪
    • Related Report
      2007 Annual Research Report
  • [Presentation] SCN1A missense mutation associated with infantile partial epilepsy.2007

    • Author(s)
      Ohmori I, Ouchida M, Kobayashi K, Ohtsuka Y, Shimizu K, Nishiki T, Tomizawa K, Matsui H.
    • Organizer
      The 30th Annual Meeting of the Japan Neuroscience Society
    • Place of Presentation
      Yokohama
    • Related Report
      2007 Annual Research Report
  • [Presentation] Nonfunctional SCN1A is common in severe myoclonic epilepsy in infancy.2007

    • Author(s)
      Ohmori I, Kahlig KM, Rhodes TH, Wang DW, Ouchida M, Matsui H, George AL.
    • Organizer
      The 10th Annual Meeting of Infantile Seizure Society
    • Place of Presentation
      Tokyo
    • Related Report
      2007 Annual Research Report
  • [Presentation] 乳児重症ミオクロニーてんかんとその辺縁てんかん症候群におけるSCN1A遺伝子異常2006

    • Author(s)
      大守伊織, 大内田守
    • Organizer
      第日29回 日本分子生物学会年会
    • Place of Presentation
      名古屋
    • Related Report
      2008 Final Research Report
  • [Presentation] Pharmacological rescue of the trafficking defective Nav1.1 channel2006

    • Author(s)
      Ohmori I, Nishiki T, Tomizawa K, Matsui H
    • Organizer
      第29回 日本神経科学会
    • Place of Presentation
      京都
    • Related Report
      2008 Final Research Report
  • [Presentation] Sodium channel Nav1.1 dysfunction in childhood neurological disorders2006

    • Author(s)
      Ohmori I, Matsui H
    • Organizer
      第48回日本小児神経学会総会
    • Place of Presentation
      浦安
    • Related Report
      2008 Final Research Report
  • [Remarks] 山陽新聞朝刊社会面2008年1月25日 「難治てんかん簡単判定 岡山大グループ考案症状など点数化」

    • Related Report
      2008 Final Research Report
  • [Remarks] 「急性脳症 発症遺伝子特定へ岡山大グループ 血液使い変異分析」

    • Related Report
      2008 Final Research Report
  • [Remarks] 岡山大学大学院医歯薬学総合研究科細胞生理学教室

    • URL

      http://seiri1.med.okayama-u.ac.jp/

    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] 脳炎または脳症の罹患リスク判定データの取得方法およびその利用、並びに熱性けいれんのてんかんへの移行リスク判定データの取得方法およびその利用2008

    • Inventor(s)
      大守伊織、大内田守
    • Industrial Property Rights Holder
      岡山大学
    • Industrial Property Number
      2008-274887
    • Filing Date
      2008-10-24
    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] 急性脳炎または急性脳症の罹患リスク判定データの取得方法およびその利用2007

    • Inventor(s)
      大守伊織、大内田守、森泰生、清中茂樹、三木崇史
    • Industrial Property Rights Holder
      岡山大学
    • Industrial Property Number
      2007-288978
    • Filing Date
      2007-11-06
    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] 脳炎または脳症の罹患リスク判定データの取得方法およびその利用2007

    • Inventor(s)
      大守伊織、大内田守
    • Industrial Property Rights Holder
      岡山大学
    • Industrial Property Number
      2007-288978
    • Filing Date
      2007-11-06
    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] Dravet症候群の早期診断を可能にするためのデータを取得する方法及びその利用2007

    • Inventor(s)
      大守伊織, 大内田守, 大塚頌子
    • Industrial Property Rights Holder
      岡山大学
    • Industrial Property Number
      2007-007449
    • Filing Date
      2007-01-16
    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] 脳炎または脳症の罹患リスク判定データの取得方法およびその利用2007

    • Inventor(s)
      大守伊織, 大内田守
    • Industrial Property Rights Holder
      岡山大学
    • Industrial Property Number
      2007-288985
    • Filing Date
      2007-11-06
    • Related Report
      2007 Annual Research Report

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Published: 2006-04-01   Modified: 2016-04-21  

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