Article
Association between genetic variation of CACNA1H and childhood absence epilepsy.
Annals of neurology - 1 Aug 2003
Chen Yucai, Lu Jianjun, Pan Hong, Zhang Yuehua, Wu Husheng, Xu Keming, Liu Xiaoyan, Jiang Yuwu, Bao Xinhua, Yao Zhijian, Ding Keyue, Lo Wilson H Y, Qiang Boqin, Chan Piu, Shen Yan, Wu Xiru
Abstract excerpt
Direct sequencing of exons 3 to 35 and the exon-intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the CACNA1H gene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated...
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