• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Gene analysis of patients diagnosed as West syndrome with minor abnormalities and mental retardation using array-CGH

Research Project

Project/Area Number 21790968
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

FUKUYO Naomi  Tohoku University, 病院, 助教 (90400366)

Project Period (FY) 2009 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywordsウエスト症候群 / 精神遅滞 / マイクロアレイ / CGH法 / ゲノムコピー数 / 染色体異常 / てんかん / 小奇形
Research Abstract

We did DNA screening in patients with West syndrome by using array-CGH in order to identify new gene mutation causing to West syndrome. We have identified putative copy-number variants, included one gene associated with epilepsy and mental retardation in previous report. We did not detected genomic mutation involving the gene in 31 cases.

Report

(3 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • Research Products

    (21 results)

All 2011 2010 2009

All Journal Article (13 results) (of which Peer Reviewed: 13 results) Presentation (8 results)

  • [Journal Article] Acute encephalopathy with a truncation Mutation in the SCN1A gene : A case report.2011

    • Author(s)
      Takayanagi M, Haginoya K, Umehara N, Kitamura T, Numata Y, Wakusawa K, Hino-Fukuyo N, Mazaki E, Yamakawa K, Ohura T, Ohtake M.
    • Journal Title

      Epilepsia in press

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] A case of West syndrome with remission of spasms following multiple cerebral hemorrhages.2010

    • Author(s)
      Hino-Fukyo N, Haginoya K, Uematsu M, Tsuchiya S.
    • Journal Title

      Brain Dev

      Volume: (Published on line 08 Nov)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly.2010

    • Author(s)
      Uematsu M, Haginoya K, Togashi N, Hino-Fukuyo N, Nakayama T, Kikuchi A, Abe y, Wakusawa K, Matsumoto Y, Kakisaka Y, Kobayashi T, Hirose M, Yokoyama H, iinuma K, Iwasaki M, Nakasato N, Kaneta T, Akasaka M, kamei A, Tsuchiya S.
    • Journal Title

      Epilepsy Res

      Volume: 92(2-3) Pages: 201-8

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Elevated plasma levels of tissue inhibitors of metalloproteinase-1 and their overexpression in muscle in human and mouse muscular dystrophy.2010

    • Author(s)
      Sun G, HaginoyaK, Chiba Y, Uematsu M, Hino-Fukuyo N, Tanaka S, Onuma A, Iinuma K, Tsuchiya S.
    • Journal Title

      J Neurol Sci

      Volume: 297(1-2) Pages: 19-28

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gucher disease type II.Neuropediatrics2010

    • Author(s)
      Wakusawa K, Haginoya K, Ishitobi M, Hino-Fukuyo N, Togashi N, Sato I, Ohura T, Yokoyama H, Kikuchi M, Iinuma K, Tsuchiya S.
    • Journal Title

      Neuropediatrics

      Volume: 41(1) Pages: 39-42

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Acute encephalopathy with a truncation mutation in the SCN1A gene :a case report.2010

    • Author(s)
      Takayanagai M, Haginoya K, Umehara N, Kitamura T, Numata Y, Wakusawa K, Hino-Fukuyo N, Mazaki E, Yamakawa K, Ohura T, Ohtake M.
    • Journal Title

      Epilepsia

      Volume: 51(9) Pages: 1886-8

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 複合的要因によりビタミンD欠乏性くる病を発症した重症心身障害児の1例2010

    • Author(s)
      豊田将夫、齋藤明子、福與なおみ、富樫紀子、管野潤子、藤原幾磨、土屋滋
    • Journal Title

      小児科臨床

      Volume: 63(5) Pages: 1039-1044

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Nueroepidemiology of West syndrome and early infantile epileptic enceohalopathy in Miyagi refecture, Japan.2009

    • Author(s)
      Hino-Fukuyo N, Haginoya K, Iinuma K, Uamatsu M, Tsuchiya S.
    • Journal Title

      Epilepsy Res 87

      Pages: 299-301

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Reduced levels of interleukin-1 antagonist in the cerebrospinal fluid in patients with West yndrome.2009

    • Author(s)
      Haginoya K, Noguchi R, Zhao Y, Munakata M, Yokoyama H, Tanaka S, Hino-Fukuyo N, Uamatsu M, Yamamoto K, Takayanagi M, Iinuma K, Tsuchiya S.
    • Journal Title

      Epilepsy Res 85

      Pages: 314-317

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Simith-Magenis syndrome with West syndrome in a 5-year-old girl : a long-term follow up study.2009

    • Author(s)
      Hino-Fukuyo N, Haginoya K, Uematsu M, Nakayama T, Kikuchi A, Kure S, Kamada F, Abe Y, Arai N, Togashi N, Onuma A, Tsuchiya S.
    • Journal Title

      J Child naurol 24

      Pages: 868-873

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy : A case report.2009

    • Author(s)
      Naomi Hino-Fukuyo, Kazuhiro Haginoya, Noriko Togashi, Mitsugu Uematsu, Taro Kitamura, Yosuke Kakisaka, Mamiko Ishitobi, Keisuke Wakusawa, Kazuie Iinuma, Hirokazu Oguni, Kazuhiro Yamakawa, Shigeru Tsuchiya
    • Journal Title

      Journal of Child Nurology 24

      Pages: 228-230

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] Smith-Magenis syndrome with West syndrome in a 5-year-old girl : along term follow-up study2009

    • Author(s)
      Hino-Fukuyo Naomi, et al.
    • Journal Title

      Journal of Child Neurology 24

      Pages: 868-873

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan2009

    • Author(s)
      Hino-Fukuyo Naomi, et al.
    • Journal Title

      Epilepsy Research 87

      Pages: 299-301

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] 本邦におけるソトス症候群の診断の実態調査2010

    • Author(s)
      福與なおみ、岡本信彦、黒澤健司、松本直道、萩野谷和裕、植松貢、土屋滋、富田博秋
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      2010-10-30
    • Related Report
      2010 Annual Research Report
  • [Presentation] 再発したdysembryoplastic neuroepithelial tumor(DNET)により痙攣発作が増悪した男児の1例2010

    • Author(s)
      福與なおみ、隈部俊宏、三上仁、前多治雄、萩野谷和裕、植松貢、土屋滋
    • Organizer
      第44回日本てんかん学会総会
    • Place of Presentation
      岡山
    • Year and Date
      2010-10-15
    • Related Report
      2010 Annual Research Report
  • [Presentation] 結節性硬化症に合併したWest症候群に対するビバガバトリンの使用プロトコール2010

    • Author(s)
      植松貢、福與なおみ、中山東城、沼田有里佳、小林朋子、柿坂席介、萩野谷和裕、土屋滋
    • Organizer
      第44回日本てんかん学会総会
    • Place of Presentation
      岡山
    • Year and Date
      2010-10-14
    • Related Report
      2010 Annual Research Report
  • [Presentation] 小脳血管芽腫を合併した3p-症候群の1例2010

    • Author(s)
      福與なおみ、萩野谷和裕、隈部俊弘、植松貢、土屋滋
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Year and Date
      2010-05-21
    • Related Report
      2010 Annual Research Report
  • [Presentation] 多発奇形を伴う精神発達遅滞におけるサブテロメア欠失のMLPA法による検索1p36欠失症候群の1例2010

    • Author(s)
      菊地敦生、福與なおみ、佐藤育子、涌澤圭介、広瀬三恵子、植松貢、富樫紀子、奈良千恵子、萩野谷和裕、呉繁夫、土屋滋
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Year and Date
      2010-05-20
    • Related Report
      2010 Final Research Report
  • [Presentation] 多発奇形を伴う精神発達遅滞におけるサブテロメア欠失のMLPA法による検索 1p36欠失症候群の1例2010

    • Author(s)
      菊地敦生、福與なおみ、佐藤育子、涌澤圭介、広瀬三恵子、植松貢、富樫紀子、奈良千恵子、萩野谷和裕、呉繁夫、土屋滋
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Year and Date
      2010-05-20
    • Related Report
      2010 Annual Research Report
  • [Presentation] 小児期発症抗アクアポリン4抗体陽性患者の臨床像2010

    • Author(s)
      福與なおみ、高橋利幸、植松貢、萩野谷和裕、土屋滋、藤原一男
    • Organizer
      第113回日本小児科学会総会
    • Place of Presentation
      盛岡
    • Year and Date
      2010-04-23
    • Related Report
      2010 Annual Research Report
  • [Presentation] 先天性第V因子欠損症による脳実質内と硬膜下の多発出血後、自然寛解したWest症候群の1女児例2009

    • Author(s)
      福與なおみ、萩野谷和裕、植松貢、土屋滋
    • Organizer
      第43回日本てんかん学会
    • Place of Presentation
      弘前
    • Year and Date
      2009-10-23
    • Related Report
      2010 Final Research Report 2009 Annual Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi