Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies.
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 patients 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.
Kananura
Colette
C
Institute of Human Genetics, University Hospital, Rheinische Friedrich-Wilhelms-University of Bonn, Bonn, Germany.
Sander
Thomas
T
Rajan
Sindhu
S
Preisig-Müller
Regina
R
Grzeschik
Karl-Heinz
KH
Daut
Jürgen
J
Derst
Christian
C
Steinlein
Ortrud K
OK
D000293:Adolescent; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D024683:Potassium Channels, Tandem Pore Domain
C498655:KCNK9 protein, human; D015221:Potassium Channels; D024683:Potassium Channels, Tandem Pore Domain; D004247:DNA