Association between genetic variation of <i>CACNA1H</i> and childhood absence epilepsy

Chen, Yucai; Lu, Jianjun; Pan, Hong; Zhang, Yuehua; Wu, Husheng; Xu, Keming; Liu, Xiaoyan; Jiang, Yuwu; Bao, Xinhua; Yao, Zhijian; Ding, Keyue; H.Y. Lo, Wilson; Qiang, Boqin; Chan, Piu; Shen, Yan; Wu, Xiru

doi:10.1002/ana.10607

Public

Association between genetic variation of CACNA1H and childhood absence epilepsy

Published in Annals of Neurology • Jul 25, 2003

Authors:

Yucai Chen

Jianjun Lu

Hong Pan

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 mis...

Subject

Missense mutation

Childhood absence epilepsy

Exon

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