IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Association between genetic variation of CACNA1H and childhood absence epilepsy
Chen, YC; Lu, JJ; Pan, H; Zhang, YH; Wu, HS; Xu, KM; Liu, XY; Jiang, YW; Bao, XH; Yao, ZJ; Ding, KY; Lo, WHY; Qiang, BQ; Chan, P; Shen, Y; Wu, XR
刊名ANNALS OF NEUROLOGY
2003-08-01
54期:2页:239-243
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]CALCIUM CHANNELS ; LOW-THRESHOLD ; NEURONS ; ETHOSUXIMIDE
英文摘要

Direct sequencing of exons 3 to 35 and the exon-intron boundaries of the C4CNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the C4CNA1H 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.

语种英语
WOS记录号WOS:000184352700015
Citation statistics
Cited Times:221[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64152
Collection北京大学第一临床医学院_儿科
作者单位1.Peking Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China
2.Natl Ctr Human Genome Res, Beijing, Peoples R China
3.Childrens Hosp, Beijing, Peoples R China
4.Capital Inst Pediat, Beijing, Peoples R China
5.Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing, Peoples R China
6.Capital Univ Med Sci, Huanwu Hosp, Beijing, Peoples R China
Recommended Citation
GB/T 7714
Chen, YC,Lu, JJ,Pan, H,et al. Association between genetic variation of CACNA1H and childhood absence epilepsy[J]. ANNALS OF NEUROLOGY,2003,54(2):239-243.
APA Chen, YC.,Lu, JJ.,Pan, H.,Zhang, YH.,Wu, HS.,...&Wu, XR.(2003).Association between genetic variation of CACNA1H and childhood absence epilepsy.ANNALS OF NEUROLOGY,54(2),239-243.
MLA Chen, YC,et al."Association between genetic variation of CACNA1H and childhood absence epilepsy".ANNALS OF NEUROLOGY 54.2(2003):239-243.
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