Journal
AMERICAN JOURNAL OF MEDICAL GENETICS
Volume 114, Issue 2, Pages 227-229Publisher
WILEY-LISS
DOI: 10.1002/ajmg.10201
Keywords
potassium channel; absence epilepsy; TASK-3; KCNK9
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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.
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