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学科主题: 临床医学
题名:
CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population
作者: Wang, Juli; Zhang, Yuehua; Liang, Jianmin; Pan, Hong; Wu, Husheng; Xu, Keming; Liu, Xiaoyan; Jiang, Yuwu; Shen, Yan; Wu, Xiru
刊名: PEDIATRIC NEUROLOGY
发表日期: 2006-09-01
DOI: 10.1016/j.pediatrneurol.2006.03.006
卷: 35, 期:3, 页:187-190
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Pediatrics
研究领域[WOS]: Neurosciences & Neurology ; Pediatrics
关键词[WOS]: CALCIUM-CHANNEL ; LOW-THRESHOLD ; NEURONS ; ETHOSUXIMIDE ; MECHANISMS ; EXPRESSION ; MUTATIONS ; CLONING ; FAMILY ; CELLS
英文摘要:

This study investigated whether the T-type calcium channel gene CACNA1I causes susceptibility in the Chinese Han population to childhood absence epilepsy, a form of idiopathic generalized seizure disorder. For this investigation, we searched for mutations in the 35 exons and exon-intron boundaries of the CACNA1I gene in 50 Han Chinese patients with childhood absence epilepsy. Seventeen single nucleotide polymorphisms were identified in the 35 exons. Using six single nucleotide polymorphisms as markers, the allele and genotype distributions of all of the identified single nucleotide polymorphisms were examined; there was no significant difference between the childhood absence epilepsy cases and the control groups. Thus, we do not consider the CACNA1I gene to be an important susceptibility gene for childhood absence epilepsy in the Chinese Han population. (c) 2006 by Elsevier Inc. All rights reserved.

语种: 英语
WOS记录号: WOS:000240748100005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60192
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, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Beijing Childrens Hosp, Beijing, Peoples R China
3.Capital Inst Pediat, Beijing, Peoples R China
4.Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Peking Union Med Coll, Beijing 100037, Peoples R China

Recommended Citation:
Wang, Juli,Zhang, Yuehua,Liang, Jianmin,et al. CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population[J]. PEDIATRIC NEUROLOGY,2006,35(3):187-190.
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