Gene analysis of patients diagnosed as West syndrome with minor abnormalities and mental retardation using array-CGH
Project/Area Number |
21790968
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Single-year Grants |
Research Field |
Pediatrics
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Research Institution | Tohoku University |
Principal Investigator |
FUKUYO Naomi Tohoku University, 病院, 助教 (90400366)
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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.
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Report
(3 results)
Research Products
(21 results)
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[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.
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Journal Title
Related Report
Peer Reviewed
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[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.
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Journal Title
Epilepsy Res
Volume: 92(2-3)
Pages: 201-8
Related Report
Peer Reviewed
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[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.
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Journal Title
Neuropediatrics
Volume: 41(1)
Pages: 39-42
Related Report
Peer Reviewed
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[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.
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Journal Title
Epilepsia
Volume: 51(9)
Pages: 1886-8
Related Report
Peer Reviewed
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[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.
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Journal Title
Epilepsy Res 85
Pages: 314-317
Related Report
Peer Reviewed
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[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.
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Journal Title
J Child naurol 24
Pages: 868-873
Related Report
Peer Reviewed
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[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
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Journal Title
Journal of Child Nurology 24
Pages: 228-230
Related Report
Peer Reviewed
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