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Whole Exome sequencing for genetic modifiers associated with phenotype of epileptic encephalopathy

Research Project

Project/Area Number 26860781
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionYamagata University

Principal Investigator

Nakamura Kazuyuki  山形大学, 医学部, 助教 (20436215)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywordsてんかん / 遺伝子 / 小児神経学 / 脳形成異常 / てんかん性脳症 / 全エクソン解析
Outline of Final Research Achievements

We analyzed with genetic basis of epileptic encephalopathy using whole exome sequencing. First, we identified GRIN2A mutations in two families: atypical Rett syndrome and unclassified epileptic encepalopathy. Our study suggests that GRIN2A mutations can be associated with atypical Rett syndrome. A variety of severity is to be noted in patients with GRIN2A mutations.
Secondly, we found compound heterozygous ASPM mutations in a case of primary microcephaly and epilepsy. This patient showed more severe intelectual disability and motor delay than individuals with ASPM mutations previously reported, and pachygyria with frontal lobe predominance. Our findings expand the variable severity of cortical malformations in patients with ASPM mutations, and suggest that frontal lesion predominance may be characteristic for ASPM mutations.

Report

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

    (10 results)

All 2016 2015 2014

All Journal Article (6 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 4 results,  Open Access: 1 results) Presentation (4 results) (of which Int'l Joint Research: 3 results)

  • [Journal Article] Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay2016

    • Author(s)
      Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
    • Journal Title

      Eur J Hum Genet

      Volume: 24 Issue: 1 Pages: 129

    • DOI

      10.1038/ejhg.2015.92

    • URL

      https://pure.teikyo.jp/en/publications/06a45aed-f2e5-424a-b8d1-3e9a6923fdc5

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016

    • Author(s)
      Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
    • Journal Title

      Am J Hum Genet

      Volume: 98 Issue: 4 Pages: 615-626

    • DOI

      10.1016/j.ajhg.2016.02.007

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM2015

    • Author(s)
      Nakamura K, Inui T, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M
    • Journal Title

      Pediatr Neurol

      Volume: 52 Issue: 5 Pages: e7-e8

    • DOI

      10.1016/j.pediatrneurol.2015.01.019

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] 特集 けいれん性疾患の最新の治療 Ⅲ.最近の進歩 原因遺伝子の解明から新しい治療薬の開発へ.2015

    • Author(s)
      中村和幸,加藤光広
    • Journal Title

      小児科診療

      Volume: 2 Pages: 253-258

    • Related Report
      2014 Research-status Report
  • [Journal Article] Paternal Germline Mosaicism of a SCN2A Mutation Results in Ohtahara Syndrome in Half Siblings.2014

    • Author(s)
      Zerem A, Blumkin L, Goldberg-Stern H,Michaeli-Yossef Y, Halevy A, Kivity S, Nakamura K, Matsumoto N, Leshinsky-Silver E, Saitsu H, Lerman-Sagie T
    • Journal Title

      Eur J Pediatr Neurol

      Volume: 18 Issue: 5 Pages: 567-571

    • DOI

      10.1016/j.ejpn.2014.04.008

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] 年齢依存性てんかん性脳症2014

    • Author(s)
      中村和幸,加藤光広
    • Journal Title

      こどもケア

      Volume: 9 Pages: 7-11

    • Related Report
      2014 Research-status Report
  • [Presentation] Evidence that variants in PIGG cause intellectual disability with early onset seizures and hypotonia2015

    • Author(s)
      Makrythanasis P, Kinoshita T, Zaki MS, Saitsu H, Santoni FA, Miyatake S, Nakashima N, Matsumoto N, Mahmoud I, Guipponi M, Kato M, Nakamura K, Hamamy H, Antonarakis SE, Murakami M
    • Organizer
      American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Baltimore, USA
    • Year and Date
      2015-10-06
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Expanding clinical spectrum of GRIN2A mutations to atypical Rett syndrome2015

    • Author(s)
      Nakamura K, Kato M, Togawa M, Maegaki Y, Ito M, Kawasaki M, Shinozaki T, Nakashima M, Matsumoto M, Saitsu H
    • Organizer
      31st International Epilepsy Congress
    • Place of Presentation
      Istunbul, Turkey
    • Year and Date
      2015-09-05
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A case of rapid-progressive bilateral Rasmussen’s encephalitis2015

    • Author(s)
      Nakamura K, Takahashi N, Onoda T, Kakita A, Takahashi Y, Honma N, Mitsui T, Kato M
    • Organizer
      13th Asian and Oceania Congress of Child Neurology
    • Place of Presentation
      Taipei, Taiwan
    • Year and Date
      2015-05-13
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A Newly identified congenital disorder of glycosylation caused by de novo mutations in SLC35A2 encoding a UDP-galactose transporter is associated with early-onset epileptic encephalopathy2014

    • Author(s)
      中村 和幸、小寺 啓文、加藤 光広、小坂 仁、前垣 義弘、萩野谷 和裕、岡本 伸彦、井合 瑞江、湯浅 勲、和田 芳直、才津 浩智、松本 直通
    • Organizer
      第48回日本てんかん学会
    • Place of Presentation
      京王プラザホテル、東京
    • Year and Date
      2014-10-02
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2017-05-10  

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