Referenced in: none

Automatically associated channels: Kir1.1 , Kir7.1

Title: Evaluation of susceptibility loci in an extended pedigree with idiopathic generalized epilepsy.

Authors: Karl Martin Klein, Regina Preisig-Müller, Susanne Knake, Hajo M Hamer, Wolfgang H Oertel, Bernd A Neubauer, Jürgen Daut, Felix Rosenow

Journal, date & volume: , 2008 Mar , 10, 13-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18367426

Abstract
Evaluation of the loci 2q36, 3q26, 5q34 and 14q23 in a German family with autosomal dominant idiopathic generalized epilepsy (IGE).A linkage analysis was performed including 10 family members (six affected, three unaffected, one probably affected), for the loci 2q36, 3q26, 5q34 and 14q23. Subsequently, a sequence analysis of the inward rectifier potassium channel gene KCNJ13 at 2q37 was carried out.Suggestive linkage for IGE was found on 2q36-37 at D2S2308 and D2S2193. No mutations were identified in the coding or 5'-non-coding regions of the exons of candidate gene KCNJ13.Our results corroborate former linkage findings on 2q36-2q37 and warrant further investigation of additional candidate genes within this chromosomal area in IGE.