title: T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population.
abstract: 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.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, No 8 Xishiku Street, 100034, Beijing, PR China.
authors.forename: Yucai
authors.initials: Y
authors.lastname: Chen
authors.forename: Jianjun
authors.initials: J
authors.lastname: Lu
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Husheng
authors.initials: H
authors.lastname: Wu
authors.forename: Keming
authors.initials: K
authors.lastname: Xu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Guibin
authors.initials: G
authors.lastname: Shi
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: 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
chemical_list: C121855:CACNA1G protein, human; D020747:Calcium Channels, T-Type