title: Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University Hospital, Rheinische Friedrich-Wilhelms-University of Bonn, Bonn, Germany.
authors.forename: Colette
authors.initials: C
authors.lastname: Kananura
authors.forename: Thomas
authors.initials: T
authors.lastname: Sander
authors.forename: Sindhu
authors.initials: S
authors.lastname: Rajan
authors.forename: Regina
authors.initials: R
authors.lastname: Preisig-Müller
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: Jürgen
authors.initials: J
authors.lastname: Daut
authors.forename: Christian
authors.initials: C
authors.lastname: Derst
authors.forename: Ortrud K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: 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
chemical_list: C498655:KCNK9 protein, human; D015221:Potassium Channels; D024683:Potassium Channels, Tandem Pore Domain; D004247:DNA