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CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population

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收录情况: ◇ SCIE

机构: [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; [5]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
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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.

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出版当年[2005]版:
大类 | 4 区 医学
最新[2023]版:
大类 | 3 区 医学
小类 | 2 区 儿科 3 区 临床神经病学
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出版当年[2004]版:
Q2 PEDIATRICS Q3 CLINICAL NEUROLOGY
最新[2023]版:
Q1 PEDIATRICS Q2 CLINICAL NEUROLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2004版] 出版当年五年平均 出版前一年[2003版] 出版后一年[2005版]

第一作者:
第一作者机构: [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; [5]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]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; [5]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
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