Article
[Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2008
Sun Huihui, Zhang Yuehua, Liu Xiaoyan, Ma Xiuwei, Wu Husheng, Xu Keming, Qi Yu, Wu Xiru
Abstract excerpt
OBJECTIVE: To identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance. METHODS: Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic...
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