In:
American Journal of Medical Genetics, Wiley, Vol. 114, No. 2 ( 2002-03-08), p. 227-229
Kurzfassung:
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. © 2002 Wiley‐Liss, Inc.
Materialart:
Online-Ressource
ISSN:
0148-7299
,
1096-8628
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2002
ZDB Id:
2143866-3
ZDB Id:
2143867-5
ZDB Id:
1493479-6
ZDB Id:
2205916-7
SSG:
12