Association between genetic variation of CACNA1H and childhood absence epilepsy
Association between genetic variation of CACNA1H and childhood absence epilepsy
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DOI：
10.1002/ana.10607
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发表时间：
2003-08-01
影响因子：
11.2
通讯作者：
Wu, XR
中科院分区：
文献类型：
--
作者：
Chen, YC;Lu, JJ;Wu, XR
对从华北地区招募的 118 名汉族儿童失神性癫痫患者进行了 C4CNA1H 基因外显子 3 至 35 以及外显子-内含子边界的直接测序。在 C4CNA1H 基因中检测到 68 个变异，其中 12 个是错义突变，仅在 118 名杂合状态患者中的 14 名中发现，但在 230 名无关对照中没有发现。已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重要易感基因。
Direct sequencing of exons 3 to 35 and the exon-intron boundaries of the C4CNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the C4CNA1H 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.