机构：[1]Department of Pediatrics, First Hospital of Peking University[2]National Center of Human Genome Research (Beijing)[3]Beijing Children’s Hospital.[4]Capital Institute of Pediatrics[5]National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College[6]Xuanwu Hospital of Capital University of Medical Sciences, Beijing, China.首都医科大学宣武医院
Direct sequencing of exons 3 to 35 and the exon-intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the CACNA1H gene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated controls. The identified missense mutations occurred in the highly conserved residues of the T-type calcium channel gene. Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.
基金：
grants from the Beijing Natural Science Foundation (7001003, X.W.), the China National High-Tech R & D Program (863-102-10, Y.S.; 2002AA223011, X.W.),
the Peking University Human Disease Gene Research Center Foundation (2000-A-8, X.W.), the Beijing Municipal Commission for Science and Technology (H010210230119, X.W.),
the China National Key Program on Basic Research (G1998051003, Y.S.), and the National Natural Science Foundation of China (39625007, 39993420, Y.S.).
语种：
外文
中科院(CAS)分区：
出版当年[2002]版：
无
最新[2023]版：
大类|1 区医学
小类|1 区临床神经病学1 区神经科学
第一作者：
第一作者机构：[1]Department of Pediatrics, First Hospital of Peking University[2]National Center of Human Genome Research (Beijing)
通讯作者：
通讯机构：[*1]Department of Pediatrics, First Hospital of Peking University, Beijing, China 100034,[*2]National Center of Human Genome Research, Beijing, China 100176
推荐引用方式(GB/T 7714)：
Yucai Chen,Jianjun Lu,Hong Pan,et al.Association between genetic variation of CACNA1H and childhood absence epilepsy[J].Annals of Neurology.2003,54(2):doi:10.1002/ana.10607.
APA：
Yucai Chen,Jianjun Lu,Hong Pan,Yuehua Zhang,Husheng Wu...&Xiru Wu.(2003).Association between genetic variation of CACNA1H and childhood absence epilepsy.Annals of Neurology,54,(2)
MLA：
Yucai Chen,et al."Association between genetic variation of CACNA1H and childhood absence epilepsy".Annals of Neurology 54..2(2003)
医学