Missense mutations in the CACNA1H gene were found in 14 of 118 (11.9%) childhood absence epilepsy patients but in 0 of 230 unrelated controls, suggesting it is an important susceptibility gene.
Case-Control (n=348)
Is genetic variation in the CACNA1H gene associated with childhood absence epilepsy?
Missense mutations in the highly conserved residues of the CACNA1H gene are associated with childhood absence epilepsy, suggesting it is an important susceptibility gene.
Absolute Event Rate: 11.9% vs 0%
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.
Chen et al. (2003) conducted a case-control in Childhood absence epilepsy (n=348). Genetic variation of CACNA1H vs. Unrelated controls was evaluated on Presence of missense mutations in the CACNA1H gene. Missense mutations in the CACNA1H gene were found in 14 of 118 (11.9%) childhood absence epilepsy patients but in 0 of 230 unrelated controls, suggesting it is an important susceptibility gene.