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学科主题: 临床医学
题名:
T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population
作者: Chen, YC; Lu, JJ; Zhang, YH; Pan, H; Wu, HS; Xu, KM; Liu, XY; Jiang, YW; Bao, XH; Zhou, J; Liu, W; Shi, GB; Shen, Y; Wu, XR
关键词: childhood absence epilepsy ; mutation ; single nucleotide polymorphisms ; susceptibility gene ; Chinese ; T-type Ca2+ channel ; alpha (1G)
刊名: NEUROSCIENCE LETTERS
发表日期: 2003-04-24
DOI: 10.1016/S0304-3940(02)00124-1
卷: 341, 期:1, 页:29-32
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: THALAMIC NEURONS ; WAVE DISCHARGES ; LOW-THRESHOLD ; RAT ; ETHOSUXIMIDE ; CELLS ; SPIKE ; MODEL ; DRUG
英文摘要:

We investigated whether the T-type calcium channel gene alpha (IG) 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 (I G). 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. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.

语种: 英语
WOS记录号: WOS:000182202100008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62668
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.Natl Ctr Human Genome Res, Beijing 100176, Peoples R China
2.Beijing Childrens Hosp, Beijing 100045, Peoples R China
3.Capital Inst Pediat, Beijing 100020, Peoples R China
4.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
5.Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China

Recommended Citation:
Chen, YC,Lu, JJ,Zhang, YH,et al. T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population[J]. NEUROSCIENCE LETTERS,2003,341(1):29-32.
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