2011 Fiscal Year Final Research Report
Development of phenotype prediction method from genotypes for channelopathy.
| Project/Area Number |
22890079
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
KANEKO Sunao 弘前大学, 大学院・医学研究科, 教授 (40106852)
NISHIO Takuhiro 浜松医科大学, 医学部, 准教授 (90172626)
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| Project Period (FY) |
2010 – 2011
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| Keywords | SCN1A関連てんかん / ナトリウムイオンチャネル / ミスセンス変異 / 表現型予測 |
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| Research Abstract |
More than 650 mutations in the voltage-gated sodium channel subunit gene SCN1A have been identified in epileptic patients with benign and severe phenotype. However, the reason why similar missense mutations in SCN1A resulting in different phenotypes has not been fully clarified yet. We analyzed genotype-phenotype correlation and constructed SCN1A-related epilepsy phenotypes prediction model based on the effects of physicochemical property changes by amino acid substitution. In the results, we suggested that several physicochemical property related to the differentiation of epilepsy phenotypes, and the prediction model based on these physicochemical property can classify severe and benign epilepsy phenotypes with high accuracy.
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[Journal Article] Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies2010
Author(s)
Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S
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Journal Title
J Hum Genet
Volume: 55
Pages: 375-378
Peer Reviewed
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