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2013 Fiscal Year Final Research Report

The clarification of molecular pathology of alternating hemiplegia of childhood.

Research Project

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Project/Area Number 23791201
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionFukuoka University

Principal Investigator

ISHII Atsushi  福岡大学, 医学部, 助手 (90568825)

Project Period (FY) 2011 – 2013
Keywords小児神経 / 遺伝子 / ATP1A3 / てんかん / 不随意運動 / エクソーム解析 / イオンチャネル / 次世代シークエンサー
Research Abstract

Alternating hemiplegia of childhood (AHC) has an onset of an abnormal eye movement during the early years of life and paroxysmal hemiplegia in the first year and a half. In addition, AHC has associated symptoms that are epilepsy and a variety of involuntary movements. There are not specific examination findings and established treatments.
Exome sequencing was performed for the 8 patients with typical AHC to identify a responsible gene. As a result, each patient harbored a heterozygous missense ATP1A3 mutation. These mutations were not found in their parents. We elucidated that a de novo heterozygous missense mutation in the ATP1A3 gene is a cause of AHC. In addition, we found out the significant correlation between phenotype and E815K mutation.

  • Research Products

    (28 results)

All 2014 2013 2012 2011

All Journal Article (19 results) Presentation (9 results)

  • [Journal Article] Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism2014

    • Author(s)
      Sasaki M., Ishii A., Saito Y., Hirose S.
    • Journal Title

      Mov Disord

      Volume: 29(1) Pages: 153-154

  • [Journal Article] Distinct neurological disorders with ATP1A3 mutations2014

    • Author(s)
      Heinzen E. L., Arzimanoglou A., Brashear A., Clapcote S. J., Gurrieri F., Goldstein D. B., Johannesson S. H., Mikati M. A., Neville B., Nicole S., Ozelius L. J., Poulsen H., Schyns T., Sweadner K. J., van den Maagdenberg A., Vilsen B., for the A. T. P. A. Working Group
    • Journal Title

      Lancet Neurol

      Volume: 13(5) Pages: 503-514

  • [Journal Article] Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy2014

    • Author(s)
      Ishii A., Kanaumi T., Sohda M., Misumi Y., Zhang B., Kakinuma N., Haga Y., Watanabe K., Takeda S., Okada M., Ueno S., Kaneko S., Takashima S., Hirose S.
    • Journal Title

      Epilepsy Res

      Volume: 108(3) Pages: 420-432

  • [Journal Article] Genotype-phenotype correlations in alternating hemiplegia of childhood2014

    • Author(s)
      S asaki M., Ishii A., Saito Y., Morisada N., Iijima K., Takada S., Araki A., Tanabe Y., Arai H., Yamashita S., Ohashi T., Oda Y., Ichiseki H., Hirabayashi S., Yasuhara A., Kawawaki H., Kimura S., Shimono M., Narumiya S., Suzuki M., Yoshida T., Oyazato Y., Tsuneishi S., Ozasa S., Yokochi K., Dejima S., Akiyama T., Kishi N., Kira R., Ikeda T., Oguni H., Zhang B., Tsuji S., Hirose S.
    • Journal Title

      Neurology

      Volume: 82(6) Pages: 482-490

  • [Journal Article] Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome2014

    • Author(s)
      Kouga T., Shimbo H., Iai M., Yamashita S., Ishii A., Ihara Y., Hirose S., Yamakawa K., Osaka H.
    • Journal Title

      Brain Dev

    • DOI

      10.1016/j.braindev.2014.04.003

  • [Journal Article] Pancreatic Solid Pseudo-Papillary Tumor Detected After Abdominal Injury2013

    • Author(s)
      Ishii A., Yoshimura K., Ideguchi .h, Hirose S.
    • Journal Title

      Gastroenterology Research

      Volume: 6(2) Pages: 67-70

  • [Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients2013

    • Author(s)
      Ishii A., Saito Y., Mitsui J., Ishiura H., Yoshimura J., Arai H., Yamashita S., Kimura S., Oguni H., Morishita S., Tsuji S., Sasaki M., Hirose S.
    • Journal Title

      PLOS ONE

      Volume: 8(2) Pages: e56120

    • DOI

      10.1371/journal.pone.0056120

  • [Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis2013

    • Author(s)
      Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Yamashita Y., Takatsuka H., Taga T., Miyata R., Ito M., Tsuchiya H., Matsuoka T., Kitao T., Murakami K., Lee W. T., Kaneko S., Hirose S.
    • Journal Title

      Brain Dev

      Volume: 35(6) Pages: 524-530

  • [Journal Article] A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy2013

    • Author(s)
      Ishii A., Shioda M., Okumura A., Kidokoro H., Sakauchi M., Shimada S., Shimizu T., Osawa M., Hirose S., Yamamoto T.
    • Journal Title

      Gene

      Volume: 531(2) Pages: 467-471

  • [Journal Article] Newborn screening for Fabry disease in Japan : prevalence and genotypes of Fabry disease in a pilot study2013

    • Author(s)
      Inoue T., Hattori K., Ihara K., Ishii A., Nakamura K., Hirose S.
    • Journal Title

      J Hum Genet

      Volume: 58(8) Pages: 548-552

  • [Journal Article] 小児神経学の新たな展開ゲノム科学による病因不明・難治性小児神経疾患の病態解明への戦略2013

    • Author(s)
      石井敦士,廣瀬伸一
    • Journal Title

      日本小児科学会雑誌

      Volume: 117(9) Pages: 1383-1388

  • [Journal Article] On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation2012

    • Author(s)
      Shi X., Wang J., Kurahashi H., Ishii A., Higurashi N., Kaneko S., Hirose S.
    • Journal Title

      Brain Dev

      Volume: 34(8) Pages: 617-619

  • [Journal Article] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis2012

    • Author(s)
      Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Yamashita Y., Takatsuka H., Taga T., Miyata R., Ito M., Tsuchiya H., Matsuoka T., Kitao T., Murakami K., Lee W. T., Kaneko S., Hirose S.
    • Journal Title

      Brain Dev

    • DOI

      10.1016/j.braindev.2012.09.006

  • [Journal Article] KCNQ2 abnormality in BECTS : Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ22012

    • Author(s)
      Ishii A., Miyajima T., Kurahashi H., Wang J. W., Yasumoto S., Kaneko S., Hirose S.
    • Journal Title

      Epilepsy Res

      Volume: 102(1-2) Pages: 122-125

  • [Journal Article] Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy2012

    • Author(s)
      Wang J. W., Shi X. Y., Kurahashi H., Hwang S. K., Ishii A., Higurashi N., Kaneko S., Hirose S., Epilepsy Genetic Study Group Japan
    • Journal Title

      Epilepsy Res

      Volume: 102(3) Pages: 195-200

  • [Journal Article] 【てんかん治療の最前線】てんかんの分子病態2012

    • Author(s)
      井原由紀子,石井敦士,日暮憲道,内田琢,中村友紀,友納優子,廣瀬伸一
    • Journal Title

      Medical Science Digest

      Volume: 38(7) Pages: 292-295

  • [Journal Article] 【知っておきたいてんかん診療】てんかんと社会てんかんと遺伝子2012

    • Author(s)
      廣瀬伸一,日暮憲道,中村友紀,黄壽卿,石井敦士
    • Journal Title

      Modern Physician

      Volume: 32(3) Pages: 282-288

  • [Journal Article] 【抑制性シナプスの基礎と臨床】疾患とその治療における抑制性シナプスの意義てんかんにおけるGABA受容体とK+チャネルの異常2012

    • Author(s)
      石井敦士,内田琢,中村友紀,廣瀬伸一
    • Journal Title

      Clinical Neuroscience

      Volume: 30(12) Pages: 1397-1400

  • [Journal Article] 【臨床に役立つてんかんの最新情報】てんかん遺伝子診断は臨床に役立つか?2011

    • Author(s)
      廣瀬伸一,日暮憲道,中村友紀,黄壽卿,石井敦士
    • Journal Title

      神経内科

      Volume: 74(5) Pages: 460-466

  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japan2013

    • Author(s)
      Ishii A., Saito Y., Mitsui J., Ishiura H., Yoshimura J., Arai H., Yamashita S., Kimura S., Oguni H., Morishita S., Tsuji S., Sasaki M., Hirose S
    • Organizer
      30th International Epilepsy Congress
    • Place of Presentation
      (国際学会・シンポジウム)
    • Year and Date
      2013-06-26
  • [Presentation] 小児交互性片麻痺の病因遺伝子であるATP1A3の同定と現状について2013

    • Author(s)
      石井敦士、佐々木征行、斎藤義朗、廣瀬伸一
    • Organizer
      第55回小児神経学会総会
    • Place of Presentation
      大分(国内学会・シンポジウム)
    • Year and Date
      2013-05-31
  • [Presentation] 小児交互性片麻痺の責任遺伝子であるATP1A3の同定2013

    • Author(s)
      石井敦士、佐々木征行、廣瀬伸一
    • Organizer
      第474回日本小児科学会福岡地方会
    • Place of Presentation
      (国内学会・シンポジウム)
    • Year and Date
      2013-04-13
  • [Presentation] 小児交互性片麻痺の原因遺伝子を見つける意義とは、新学術「ゲノム支援」2013

    • Author(s)
      石井敦士
    • Organizer
      公開シンポジウム「次世代ゲノム科学の最前線」
    • Place of Presentation
      京都大学(国内学会・シンポジウム)
    • Year and Date
      2013-02-19
  • [Presentation] Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in Japanese patients2012

    • Author(s)
      Ishii A.
    • Organizer
      Symposium ATP1A3 in Disease
    • Place of Presentation
      Brussels, Belgium(国際学会・シンポジウム)
    • Year and Date
      2012-12-11
  • [Presentation] 小児交互性片麻痺の分子病態の解明2012

    • Author(s)
      石井敦士
    • Organizer
      24-7「脳形成異常を主とする発達期障害の病因・態と治療に関する研究」22-6「発達障害の診断および治療法開に関する臨床研究」班合同シンポジウム
    • Place of Presentation
      国立精神・神経医療研究センター(国内学会・シンポジウム)
    • Year and Date
      2012-11-24
  • [Presentation] Genetic analysis of Alternating Hemiplegia of Childhood2012

    • Author(s)
      Ishii A., Saito Y., Sasaki M., Hirose S.
    • Organizer
      10th European Congress of Epileptology
    • Place of Presentation
      London(国際学会・シンポジウム)
    • Year and Date
      2012-09-30
  • [Presentation] 遺伝子研究からのてんかんの分子病態の解明を目指して2012

    • Author(s)
      石井敦士
    • Organizer
      第22回遺伝医学セミナー
    • Place of Presentation
      ホテル阪急エキスポパーク(国内学会・シンポジウム)
    • Year and Date
      2012-09-08
  • [Presentation] Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choleoathetosis syndrome, and benign convulsions with mild gastroenteritis2012

    • Author(s)
      Ishii A., Yasumoto S., Ihara Y., Inoue T., Fujita T., Nakamura N., Ohfu M., Lee WT., Kaneko S., Hirose S.
    • Organizer
      2012 Korea Epilepsy Congress
    • Place of Presentation
      Inchon(国際学会・シンポジウム)
    • Year and Date
      2012-06-08

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Published: 2015-06-25   Modified: 2023-03-16  

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