KCNJ10 potassium ion channel single nucleotide polymorphism in pediatric patients with idiopathic generalized epilepsy: A study from Turkey

Abstract

Background The etiology of common idiopathic epileptic syndromes can be genetically determined in some cases. The existence of inward-rectifying potassium channels (Kir) was first recognized half a century ago and several candidate genes, one of which, KCNJ1O, exhibits a potentially important polymorphism with regard to fundamental aspects of seizure susceptibility. Objective The aim of this study was to determine the frequency of KCNJ10 potassium ion channel single nucleotide polymorphism in Turkish pediatric patients with idiopathic generalized epilepsy. Methods In this study, we examined 233 pediatric patients with idiopathic generalized epilepsy (IGE) and 174 healthy control groups. We studied to identify an allelic association of a common missense variation (Arginine271Cysteine) in the KCNJ1O gene in Turkish pediatric patients with IGE. Results Our data did not show any statistical significance of missense variation in patients with IGE. In this study, we did not find any allelic association of a common missense variation (Arginine271Cysteine) in the KCNJ1O gene in pediatric patients with idiopathic generalized epilepsy. Conclusion This study suggests that the missense variation Arg27ICys at the human KCNJ10 locus can influence risk for acquiring common forms of human epilepsy. But there may be differences in K allele frequencies from population to population in different parts of the world. Heterogeneity can exist in the population of different geographic locations or countries such as our patient population from Turkey.