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学科主题: 临床医学
题名:
New variants in the CACNA1H gene identified in childhood absence epilepsy
作者: Liang, Jianmin; Zhang, Yuehua; Wang, Juli; Pan, Hong; Wu, Husheng; Xu, Keming; Liu, Xiaoyan; Jiang, Yuwu; Shen, Yan; Wu, Xiru
关键词: childhood absence epilepsy ; variation ; single nucleotide polymorphism ; Chinese ; CACNA1H
刊名: NEUROSCIENCE LETTERS
发表日期: 2006-10-02
DOI: 10.1016/j.neulet.2006.06.073
卷: 406, 期:1-2, 页:27-32
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]: IDIOPATHIC GENERALIZED EPILEPSY ; CALCIUM-CHANNEL ; EPISODIC ATAXIA ; ASSOCIATION
英文摘要:

Childhood absence epilepsy (CAE) is a common form of idiopathic generalized epilepsy with polygenic inheritance. In our previous studies, relatively high frequent variants in the T-type calcium channel gene, CACNA1H, were identified in the Chinese Han population, most of which are located in exons 6-12. The goal of this study was to identify additional variants in this region of the CACNA I H gene. To this end, exons 6-12 were sequenced in 100 newly recruited CAE trios and 191 normal controls. Thirty-nine variants were identified in CAE trios or controls, 14 of which were found only in CAE patients, including two nonsynonymous variants that were newly found. Thirteen of the 39 variants were found in both CAE patients and controls, I I were found only in parents of CAE trios, and one was found only in controls. Twenty-eight of these variants had not been previously reported. Both permutation test and transmission/disequilibrium test (TDT) indicated that a SNP-52037C > T in intron11 was significant in association with CAE. In conclusion, these data further support the hypothesis that CACNA1H is an important susceptibility gene for CAE in the Chinese Han population. (c) 2006 Elsevier Ireland Ltd. All rights reserved.

语种: 英语
WOS记录号: WOS:000240775600006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56853
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.Capital Inst Pediat, Beijing 100020, Peoples R China
2.Beijing Childrens Hosp, Beijing 100045, Peoples R China
3.Beijing Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China
4.Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China

Recommended Citation:
Liang, Jianmin,Zhang, Yuehua,Wang, Juli,et al. New variants in the CACNA1H gene identified in childhood absence epilepsy[J]. NEUROSCIENCE LETTERS,2006,406(1-2):27-32.
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