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

• 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
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥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.

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] 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)
  • 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
  • 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
  • Peer Reviewed
• [Journal Article] The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gucher disease type II.Neuropediatrics (2010)
  • 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
  • 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
  • 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
  • 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
• [Journal Article] Smith-Magenis syndrome with West syndrome in a 5-year-old girl : along term follow-up study (2009)
  • Author(s): Hino-Fukuyo Naomi, et al.
  • Journal Title: Journal of Child Neurology 24 Pages: 868-873
  • Peer Reviewed
• [Journal Article] Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan (2009)
  • Author(s): Hino-Fukuyo Naomi, et al.
  • Journal Title: Epilepsy Research 87 Pages: 299-301
  • 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
• [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
• [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
• [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
• [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] 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] 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
• [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