Article
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.
Neuroscience letters - 26 Sept 2011
Cui Xiukun, Zeng Feng, Liu Ying, Zhang Jing, Archacki Stephen, Zhan Tailan, Du Rong, Tang Zhaohui, Liu Jingyu, Wang Qing K, Liu Mugen
Abstract excerpt
Generalized epilepsy with febrile seizures plus (GEFS(+)) is a common familial epilepsy syndrome, which generally develops in childhood. GEFS(+) is caused by mutations in the sodium-channel α1-subunit (SCN1A). In this report, we investigated a Chinese family with an autosomal dominant form of GEFS(+). The affected GEFS(+) patients in this family displayed significant inter-family clinical heterogeneity. Linkage...
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