title: Association between genetic variation of CACNA1H and childhood absence epilepsy.
abstract: 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.
authors.affiliation: Department of Pediatrics, First Hospital of Peking University, Beijing, China.
authors.forename: Yucai
authors.initials: Y
authors.lastname: Chen
authors.forename: Jianjun
authors.initials: J
authors.lastname: Lu
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
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: Zhijian
authors.initials: Z
authors.lastname: Yao
authors.forename: Keyue
authors.initials: K
authors.lastname: Ding
authors.forename: Wilson H Y
authors.initials: WH
authors.lastname: Lo
authors.forename: Boqin
authors.initials: B
authors.lastname: Qiang
authors.forename: Piu
authors.initials: P
authors.lastname: Chan
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: 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
chemical_list: C479952:CACNA1H protein, human; D020747:Calcium Channels, T-Type; D004247:DNA