ASIA unversity:Item 310904400/6663
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    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6663


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    题名: The lack of association between febrile convulsions and polymorphisms in SCN1A
    作者: I-Ching Chou;Ching-Tien Peng;Fuu-Jen Tsai;Huang CC;Shi YR;Chang-Hai Tsai
    日期: 2003-04
    上传时间: 2009-12-23 14:21:22 (UTC+8)
    出版者: Asia University
    摘要: Febrile convulsions (FCs) represent the majority of childhood seizures, and patients have a genetic predisposition to their development. The genetic susceptibility to FCs seems to involve multiple genes in most instances. Recent studies provided evidence that mutations in SCN1A represent the most frequent cause of generalized epilepsy with febrile seizures plus an autosomal-dominant epilepsy syndrome. SCN1A mutations alter channel inactivation, resulting in persistent inward sodium current. It is not known if polymorphisms in those genes involved in familial epilepsies also contribute to the pathogenesis of FCs. By performing an association study, we used single nucleotide polymorphisms to investigate the distribution of genotypes of SCN1A in patients with FCs. A total of 104 Taiwanese children with FCs and 83 normal control subjects were included in the study. Polymerase chain reaction was used to identify the A/G polymorphism of the SCN1A gene. The results showed that genotypes and allelic frequencies for the SCN1A gene polymorphisms in both groups were not significantly different. These data suggest that the SCN1A gene might not be one of the susceptibility factors for FCs. Pure FCs and febrile convulsions associated with idiopathic generalized epilepsy may not share a common genetic etiology.
    關聯: EPILEPSY RESEARCH 54 (1): 53-57
    显示于类别:[醫學暨健康學院] 期刊論文

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