Referenced in: none

Automatically associated channels: Cav3.2

Title: Association between genetic variation of CACNA1H and childhood absence epilepsy.

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

Journal, date & volume: Ann. Neurol., 2003 Aug , 54, 239-43

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12891677

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.