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Whole-exome sequencing of a large Japanese family with febrile seizures

Research Project

Project/Area Number 17K10079
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionIbaraki Prefectural University of Health Science

Principal Investigator

Nakayama Junko  茨城県立医療大学, 付属病院, 准教授 (30433155)

Co-Investigator(Kenkyū-buntansha) 野口 恵美子  筑波大学, 医学医療系, 教授 (40344882)
岩崎 信明  茨城県立医療大学, 保健医療学部, 教授 (70251006)
Project Period (FY) 2017-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywords熱性けいれん / 遺伝子 / エクソーム解析
Outline of Final Research Achievements

To identify febrile seizure susceptible genes, we performed whole exome sequencing of seven FS patients who belong to a large Japanese family with FS (KI#1). We extensively searched for candidate variants located in the FEB4 region, but no strong candidates were detected using our filtering method. We identified a heterozygous variant (c.3335A>G; p.Ser1112Asn) in the sodium voltage-gated channel alpha subunit 9 gene (SCN9A) located on chromosome 2. Genotyping of this variant was performed for 270 subjects from Japanese families with FS. p.Ser1112Asn was not detected in any of the subjects analyzed except for the members from KI#1. Mutations in SCN9A have been reported to be associated with several disorders including FS and generalized epilepsy with febrile seizures plus. The functional effect of the variant remains to be elucidated. Experiments using model organisms may be required to examine the functional effect of the variant.

Academic Significance and Societal Importance of the Research Achievements

熱性けいれんは良性の疾患と考えられているが、その一部はのちにてんかんを発症したり重積発作をひきおこすことがある。そのため、熱性けいれんの疾患感受性遺伝子を同定して病態を解明することが、てんかんなどのより重篤な疾患の病態解明につながる可能性が期待される。今回同定されたチャンネル遺伝子のバリアントは1家系のみにしか同定されていないが、同遺伝子の別のバリアントが他の日本人熱性けいれん家系の疾患発症にかかわっている可能性もあるため、今後さらに解析が必要と考えられた。

Report

(7 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (4 results)

All 2020 2018

All Journal Article (2 results) (of which Peer Reviewed: 2 results) Presentation (2 results)

  • [Journal Article] Effect of botulinum toxin type A treatment in children with cerebral palsy: Sequential2018

    • Author(s)
      Matsuda M, Tomita K, Yozu A, Nakayama T, Nakayama J, Ohguro H, Iwasaki N.
    • Journal Title

      Brain Dev

      Volume: 40 Pages: 452-457

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Robot-assisted training using Hybrid Assistive Limb® for cerebral palsy.2018

    • Author(s)
      Matsuda M, Iwasaki N, Mataki Y, Mutsuzaki H, Yoshikawa K, Takahashi K, Enomoto K,
    • Journal Title

      Brain Dev

      Volume: 40 Pages: 642-648

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Presentation] Whole-exome sequencing of a large Japanese family with febrile seizures2020

    • Author(s)
      Junko Nakayama
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Research-status Report
  • [Presentation] 当院における染色体異常をもつ小児に対する入院リハビリテーション2018

    • Author(s)
      中山純子、中山智博、大黒春夏、渡慶次香代、岩崎信明
    • Organizer
      日本リハビリテーション医学会秋季学術集会
    • Related Report
      2018 Research-status Report

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Published: 2017-04-28   Modified: 2024-01-30  

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