机构：[1]Beijing Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China;[2]Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China;[3]Capital Inst Pediat, Beijing 100020, Peoples R China;[4]Beijing Childrens Hosp, Beijing 100045, Peoples R China;首都医科大学附属北京儿童医院[5]Beijing Univ, First Hosp, Dept Pediat, No 8 Xishiku St, Beijing 100034, Peoples R China
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.
基金：
We thank all the patients and their families for participation in this study. We also thank all the clinicians who contributed cases to the study. This research was supported by grants from the National Natural Science Foundation of China (No. 30371494), China National “211 Project” in Peking University (No. 205), National High-Tech Research & Development Program of China (No. 2002BA711A07) and Post-doctoral project of China (2005037033).
第一作者机构：[1]Beijing Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China;[2]Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China;[3]Capital Inst Pediat, Beijing 100020, Peoples R China;[4]Beijing Childrens Hosp, Beijing 100045, Peoples R China;[5]Beijing Univ, First Hosp, Dept Pediat, No 8 Xishiku St, Beijing 100034, Peoples R China
通讯作者：
通讯机构：[1]Beijing Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China;[2]Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China;[3]Capital Inst Pediat, Beijing 100020, Peoples R China;[4]Beijing Childrens Hosp, Beijing 100045, Peoples R China;[5]Beijing Univ, First Hosp, Dept Pediat, No 8 Xishiku St, Beijing 100034, Peoples R China
推荐引用方式(GB/T 7714)：
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.doi:10.1016/j.neulet.2006.06.073.
APA：
Liang, Jianmin,Zhang, Yuehua,Wang, Juli,Pan, Hong,Wu, Husheng...&Wu, Xiru.(2006).New variants in the CACNA1H gene identified in childhood absence epilepsy.Neuroscience letters,406,(1-2)
MLA：
Liang, Jianmin,et al."New variants in the CACNA1H gene identified in childhood absence epilepsy".Neuroscience letters 406..1-2(2006):27-32
