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

2010 Fiscal Year Final Research Report

• Project/Area Number: 21790968
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: FUKUYO Naomi Tohoku University, 病院, 助教 (90400366)
• Project Period (FY): 2009 – 2010
• 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.

Research Products

• [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
  • 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
  • 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
  • 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
  • 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
  • Peer Reviewed
• [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
• [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