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学科主题: 临床医学
题名:
Association between genetic variation of CACNA1H and childhood absence epilepsy
作者: 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
发表日期: 2003-08-01
卷: 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:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64152
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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:
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.
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