2009 Fiscal Year Final Research Report
Identification of responsive genes for infantile epilepsy using genomic microarray
| Project/Area Number |
20790267
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | Yokohama City University |
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Principal Investigator |
SAITSU Hirotomo Yokohama City University, 医学部, 助教 (40402838)
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| Project Period (FY) |
2008 – 2009
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| Keywords | ゲノム / てんかん / 乳児 / 大田原症候群 / STXBP1 |
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| Research Abstract |
Thorough genomic microarray analysis of patients with infantile epilepsy, we identified a de novo microdeletion at 9q33.3-q34.11 in a patient with Ohtahara syndrome. Among the genes mapped within the deletion, STXBP1 was found to be mutated in four patients with Ohtahara syndrome, indicating that mutations of STXBP1 caused Ohtahara syndrome (Saitsu et al., Nature Genetics, 2008). This finding raised a novel mechanism in which aberration of synaptic vesicle release would cause epilepsy.
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Research Products
(17 results)
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[Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.2010
Author(s)
Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T
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Journal Title
Genesis 48(4)
Pages: 233-43
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[Journal Article] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split foot malformation and hearing loss.2009
Author(s)
Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
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Journal Title
Am J Med Genet A 149A(6)
Pages: 1224-1230
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[Journal Article] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.2008
Author(s)
Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
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Journal Title
Nature Genetics 40(6)
Pages: 782-8
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[Presentation] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.2009
Author(s)
Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
Organizer
59th Annual Meeting of The American Society of Human Genetics
Place of Presentation
Hawaii, USA
Year and Date
2009-10-21
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[Presentation] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.2008
Author(s)
Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
Organizer
58th Annual Meeting of The American Society of Human Genetics
Place of Presentation
Philadelphia, USA
Year and Date
20080000
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[Presentation] STXBP1(MUNC18-1)をコードする遺伝子のde novo変異によって大田原症候群が引き起こされる2008
Author(s)
才津浩智, 加藤光広, 水口剛, 濱田恵輔, 小坂仁, 遠山潤, 宇留野勝久, 熊田聡子, 西山精視, 西村章, 岡田一平, 吉村有紀子, 平井秀一, 熊田竜郎, 早坂清, 福田敦夫, 緒方一博, 松本直通
Organizer
日本人類遺伝学会第53回大会
Place of Presentation
横浜
Year and Date
20080000
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