T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population.
We investigated whether the T-type calcium channel gene alpha (1G) is associated with childhood absence epilepsy (CAE), a form of idiopathic generalized epilepsy. We carried out direct sequencing of exons 1-37 and the exon-intron boundaries of the alpha (1G) gene in 48 Han Chinese patients with CAE and 48 normal controls. We found no mutation in the exons of alpha (1G). However, we did identify six single nucleotide polymorphisms (SNPs). Using two of these as markers, we carried out a case-control study in 192 patients with CAE and 192 normal controls. The allele and genotype distributions of all the SNPs studied were not significantly different between cases and control groups, thus the alpha (1G) gene is not an important susceptibility gene for CAE, at least in the Chinese population.
Chen
Yucai
Y
Department of Pediatrics, Peking University First Hospital, No 8 Xishiku Street, 100034, Beijing, PR China.
Lu
Jianjun
J
Zhang
Yuehua
Y
Pan
Hong
H
Wu
Husheng
H
Xu
Keming
K
Liu
Xiaoyan
X
Jiang
Yuwu
Y
Bao
Xinhua
X
Zhou
Jing
J
Liu
Wei
W
Shi
Guibin
G
Shen
Yan
Y
Wu
Xiru
X
D000483:Alleles; D044466:Asian People / Q000235:genetics*; D020747:Calcium Channels, T-Type / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D004832:Epilepsy, Absence / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
C121855:CACNA1G protein, human; D020747:Calcium Channels, T-Type