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Multiple approaches of molecular and genetic analyses for pathophysiology of intractable epilepsy in childhood

Research Project

Project/Area Number 25670486
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionNational Center of Neurology and Psychiatry

Principal Investigator

Masayuki Itoh  国立研究開発法人国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 室長 (50243407)

Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywordsてんかん / 大脳皮質形成異常 / 次世代シークエンサー / 体細胞変異 / 難治性てんかん / 大脳皮質形成異常症 / 片側性巨脳症 / 遺伝子
Outline of Final Research Achievements

It is known that prevalence of epilepsy is estimated about 1.0 % of peoples, and among them childhood patients occupy about 70%. The pathologies of childhood intractable epilepsy are quite a few brain malformations; those majorities are focal cortical dysplasia (FCD) and hemimegalencephaly (HME). In the present study, we revealed genetic and molecular pathomechanism of FCD and HME.
After obtained an informed consent and permitted by the committee of the institute for the study, we performed genetic analysis of 28 patients with FCD or HME by the next generation sequencer. Then, we confirmed the genetic variants by the Sanger sequencer and the currently variant ratio by the pyrosequence method. As the results, we discovered one somatic mutation patient and four germline mutation patients. Moreover, we revealed that the genetic mutations lead to form dysmorphic cells and cell migration disruption by in vivo and in vitro studies.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (10 results)

All 2015 2014

All Journal Article (3 results) (of which Peer Reviewed: 3 results,  Acknowledgement Compliant: 2 results,  Open Access: 1 results) Presentation (7 results) (of which Invited: 2 results)

  • [Journal Article] Two siblings with cortical dysplasias: focal cortical dysplasia and hemimegalencephaly: clinicoencephalographic features.2015

    • Author(s)
      Fukasawa T, Kubota T, Negoro T, Maruyama S, Honda R, Saito Y, Ito M, Kakita A, Sugai K, Otsuki T, Natsume J, Watanabe K
    • Journal Title

      Pediatric Int

      Volume: 57 Issue: 3 Pages: 472-475

    • DOI

      10.1111/ped.12509

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Expression of Astrocyte-related Receptors in Cortical Dysplasia with Intractable Epilepsy2014

    • Author(s)
      Sukigara S, Dai H, Nabatame S, Otsuki T, Hanai S, Honda R, Saito T, Nakagawa E, Kaido T, Sato N, Kaneko Y, Takahashi A, Sugai K, Saito Y, Sasaki M, Goto Y, Koizumi S, Itoh M
    • Journal Title

      J Neuropathol Exp Neurol

      Volume: 73 Pages: 798-806

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] LOX-1 Is a Novel Therapeutic Target in Neonatal Hypoxic-Ischemic Encephalopathy2014

    • Author(s)
      Akamatsu T, Dai H, Mizuguchi M, Goto Y, Oka A, Itoh M
    • Journal Title

      Am J Pathol

      Volume: 184 Issue: 6 Pages: 1843-1852

    • DOI

      10.1016/j.ajpath.2014.02.022

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] 形成障害.2015

    • Author(s)
      伊藤雅之
    • Organizer
      第11回神経病理コアカリキュラム教育セミナー. 第56回日本神経病理学会総会学術研究会.
    • Place of Presentation
      九州大学百年記念講堂. 福岡
    • Year and Date
      2015-06-03
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] Comparative Neuropathology of Lissencephaly with ARX Mutation: Consideration of Neocortical Interneuron Distribution2014

    • Author(s)
      Itoh M
    • Organizer
      The 5th Congress of the European Academy of Paediatric Societies
    • Place of Presentation
      Centre Convencions Internacional de Barcelona, Barcelona, Spain
    • Year and Date
      2014-09-19
    • Related Report
      2014 Research-status Report
  • [Presentation] The way of interneuron distribution in human neocortex: Lesson from various lissencephalies2014

    • Author(s)
      Itoh M
    • Organizer
      9th FENS Forum of Neuroscience
    • Place of Presentation
      Milano Congressi, Milan, Italy
    • Year and Date
      2014-07-05 – 2014-07-09
    • Related Report
      2014 Research-status Report
  • [Presentation] てんかんはどうして起こるのか? ~てんかんの病理から考える~2014

    • Author(s)
      伊藤雅之
    • Organizer
      第23回(ELPS)-2014春季 仙台てんかん医学市民講座
    • Place of Presentation
      仙台国際会議場, 仙台
    • Year and Date
      2014-06-07
    • Related Report
      2014 Research-status Report
    • Invited
  • [Presentation] サプレッションバーストを伴うてんかん性脳症を呈したLeigh脳症の1剖検例2014

    • Author(s)
      座波清誉、松本浩、中村康子、伊藤雅之、大竹明
    • Organizer
      第56回日本小児神経学会
    • Place of Presentation
      アクトシティ浜松, 浜松
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Research-status Report
  • [Presentation] 限局性皮質形成異常によるてんかん患者の発作頻度の特徴について2014

    • Author(s)
      跡部真人,須貝研司,石山昭彦,齋藤貴志,斎藤義朗,小牧宏文,中川栄二,佐々木征行,高橋章夫,大槻泰介,伊藤雅之,柿田明美
    • Organizer
      第56回日本小児神経学会
    • Place of Presentation
      アクトシティ浜松, 浜松
    • Year and Date
      2014-05-29 – 2014-05-31
    • Related Report
      2014 Research-status Report
  • [Presentation] 小児難治性てんかんの大脳皮質形成異常の原因遺伝子と発症病態の解明のための分子生物学的研究2014

    • Author(s)
      伊藤雅之、鋤柄小百合
    • Organizer
      第25回てんかん治療研究会
    • Place of Presentation
      大阪、千里阪急ホテル
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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