Association between genetic variation of <i>CACNA1H</i> and childhood absence epilepsy
Yucai Chen(Peking University), Jianjun Lu(Peking University), Hong Pan(Peking University), Yuehua Zhang(Peking University), Husheng Wu(Beijing Children’s Hospital), Keming Xu(Capital Institute of Pediatrics), Xiaoyan Liu(Peking University), Yuwu Jiang(Peking University), Xinhua Bao(Peking University), Zhijian Yao(Chinese National Human Genome Center), Keyue Ding(Chinese Academy of Medical Sciences & Peking Union Medical College), Wilson H.Y. Lo(Chinese Academy of Medical Sciences & Peking Union Medical College), Boqin Qiang(Chinese Academy of Medical Sciences & Peking Union Medical College), Piu Chan(Chinese National Human Genome Center), Yan Shen(Chinese Academy of Medical Sciences & Peking Union Medical College), Xiru Wu(Peking University)
Cited by 374Open Access
Abstract
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.
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