Association between genetic variation of CACNA1H and childhood absence epilepsy.
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
Yucai
Y
Department of Pediatrics, First Hospital of Peking University, Beijing, China.
Lu
Jianjun
J
Pan
Hong
H
Zhang
Yuehua
Y
Wu
Husheng
H
Xu
Keming
K
Liu
Xiaoyan
X
Jiang
Yuwu
Y
Bao
Xinhua
X
Yao
Zhijian
Z
Ding
Keyue
K
Lo
Wilson H Y
WH
Qiang
Boqin
B
Chan
Piu
P
Shen
Yan
Y
Wu
Xiru
X
D017668:Age of Onset; D019943:Amino Acid Substitution; D020747:Calcium Channels, T-Type / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004247:DNA / Q000235:genetics; D004569:Electroencephalography; D004832:Epilepsy, Absence / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction
C479952:CACNA1H protein, human; D020747:Calcium Channels, T-Type; D004247:DNA