Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies

被引:21
作者
Kananura, C
Sander, T
Rajan, S
Preisig-Müller, R
Grzeschik, KH
Daut, J
Derst, C
Steinlein, OK
机构
[1] Univ Bonn, Univ Hosp, Inst Human Genet, D-5300 Bonn, Germany
[2] Humboldt Univ, Univ Hosp Charite, Dept Neurol, Berlin, Germany
[3] Univ Marburg, Inst Physiol, D-35032 Marburg, Germany
[4] Univ Marburg, Dept Human Genet, D-35032 Marburg, Germany
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 114卷 / 02期
关键词
potassium channel; absence epilepsy; TASK-3; KCNK9;
D O I
10.1002/ajmg.10201
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Recently, the gene coding for the tandem pore domain K+-channel TASK-3 (KCNK9) has been localized to the chromosomal region 8q24. Because mutations in ion channel genes have been recognized as an important factor in the etiology of abnormal neuronal excitability, TASK-3 is an interesting candidate gene for epilepsies linked to 8q24. We therefore performed a mutation analysis of the TASK-3 gene in 65 zpatients with childhood and juvenile absence epilepsy. Only one silent nucleotide exchange (636C/T) was detected in exon 2 of the TASK-3 coding region. No evidence for an allelic association was found between the exon 2 polymorphism and absence epilepsy. Accordingly, genetic variation of the TASK-3 coding region does not play a major role in the etiology of idiopathic absence epilepsies. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:227 / 229
页数:3
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