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学科主题临床医学
CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population
Wang, Juli; Zhang, Yuehua; Liang, Jianmin; Pan, Hong; Wu, Husheng; Xu, Keming; Liu, Xiaoyan; Jiang, Yuwu; Shen, Yan; Wu, Xiru
刊名PEDIATRIC NEUROLOGY
2006-09-01
DOI10.1016/j.pediatrneurol.2006.03.006
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
引用统计
被引频次:13[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60192
专题北京大学第一临床医学院_儿科
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
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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.
APA Wang, Juli.,Zhang, Yuehua.,Liang, Jianmin.,Pan, Hong.,Wu, Husheng.,...&Wu, Xiru.(2006).CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population.PEDIATRIC NEUROLOGY,35(3),187-190.
MLA Wang, Juli,et al."CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population".PEDIATRIC NEUROLOGY 35.3(2006):187-190.
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