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
Department of Pediatrics, First Hospital of Peking University, Beijing, China.
Ann Neurol. 2003 Aug;54(2):239-43. doi: 10.1002/ana.10607.
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 controls. The identified missense mutations occurred in the highly conserved residues of the T-type calcium channel gene. Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.
对来自中国北方招募的118名汉族儿童失神癫痫患者的CACNA1H基因外显子3至35以及外显子-内含子边界进行了直接测序。在CACNA1H基因中检测到68个变异，在鉴定出的变异中，有12个是错义突变，仅在118名患者中的14名中以杂合状态发现，而在230名无关对照中均未发现。所鉴定的错义突变发生在T型钙通道基因的高度保守残基中。我们的结果表明，CACNA1H可能是参与儿童失神癫痫发病机制的一个重要易感基因。
