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T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population

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收录情况： ◇ SCIE

作者：
Chen, YC[1,2,3,4,5,6] * ; Lu, JJ[1,2,3,4,5,6] ; Zhang, YH[1,2,3,4,5,6] ; Pan, H[1,2,3,4,5,6] ; Wu, HS[1,2,3,4,5,6] ; Xu, KM[1,2,3,4,5,6] ; Liu, XY[1,2,3,4,5,6] ; Jiang, YW[1,2,3,4,5,6] ; Bao, XH[1,2,3,4,5,6] ; Zhou, J[1,2,3,4,5,6] ; Liu, W[1,2,3,4,5,6] ; Shi, GB[1,2,3,4,5,6] ; Shen, Y[1,2,3,4,5,6] ; Wu, XR[1,2,3,4,5,6] ;
机构： [1]Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China; [2]Natl Ctr Human Genome Res, Beijing 100176, Peoples R China; [3]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [4]Capital Inst Pediat, Beijing 100020, 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; [6]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
出处：
DOI： 10.1016/S0304-3940(03)00124-1
ISSN：

关键词： childhood absence epilepsy mutation single nucleotide polymorphisms susceptibility gene Chinese T-type Ca2+ channel alpha (1G)

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.

基金：
We are grateful to all the members of the families who participated in this work, to the many clinicians who contributed cases to the study, and to Professors Antonio V. Delgado-Escueta and Dalong Ma for their valuable discussions. This research was supported by the Beijing Natural Science Foundation (Grant 7001003), the China National High-Tech R & D Program (Grants 863-102-10 and 2002AA223011), the Peking University Human Disease Gene Research Center Foundation (Grant 2000-A-8), the Beijing Municipal Commission for Science & Technology (Grant H010210230119), the China National Key Program on Basic Research (G1998051003), and the National Natural Science Foundation of China (Grants 39625007 and 39993420).
语种：
外文
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出版当年[2002]版：
无
最新[2023]版：
大类 | 4 区 医学
小类 | 4 区 神经科学
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出版当年[2001]版：
Q2 NEUROSCIENCES
最新[2023]版：
Q3 NEUROSCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2001版] 出版当年五年平均 出版前一年[2000版] 出版后一年[2002版]

第一作者：
第一作者机构： [1]Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China; [2]Natl Ctr Human Genome Res, Beijing 100176, Peoples R China; [3]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [4]Capital Inst Pediat, Beijing 100020, 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; [6]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
通讯作者：
通讯机构： [1]Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China; [2]Natl Ctr Human Genome Res, Beijing 100176, Peoples R China; [3]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [4]Capital Inst Pediat, Beijing 100020, 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; [6]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
推荐引用方式(GB/T 7714)：
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.doi:10.1016/S0304-3940(03)00124-1.
APA：
Chen, YC,Lu, JJ,Zhang, YH,Pan, H,Wu, HS...&Wu, XR.(2003).T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population.NEUROSCIENCE LETTERS,341,(1)
MLA：
Chen, YC,et al."T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population".NEUROSCIENCE LETTERS 341..1(2003):29-32

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