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Association between genetic variation of CACNA1H and childhood absence epilepsy.

Authors: Chen, Y  Lu, J  Pan, H  Zhang, Y  Wu, H  Xu, K  Liu, X  Jiang, Y  Bao, X  Yao, Z  Ding, K  Lo, WH  Qiang, B  Chan, P  Shen, Y  Wu, X 
Citation: Chen Y, etal., Ann Neurol 2003 Aug;54(2):239-43.
Pubmed: (View Article at PubMed) PMID:12891677
DOI: Full-text: 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.

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CRRD Object Information
CRRD ID: 1358447
Created: 2005-06-12
Species: All species
Last Modified: 2005-06-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.