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- W1978668883 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." @default.
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- W1978668883 date "2002-03-08" @default.
- W1978668883 modified "2023-10-13" @default.
- W1978668883 title "Tandem pore domain K<sup>+</sup>-channel TASK-3 (KCNK9) and idiopathic absence epilepsies" @default.
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- W1978668883 doi "https://doi.org/10.1002/ajmg.10201" @default.
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