title: Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.
abstract: The purpose of this study was to investigate the possible association between childhood epilepsy and KCNJ10 gene polymorphisms (rs61822012 and rs2486253). A total of 200 epileptic cases and 200 healthy controls enrolled to this study. Genomic DNAs from the patients and control cases were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism methods. There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). T allele was also increased in patients with generalized tonic-clonic seizures (P = .0158). However, no statistically significant association was found between rs61822012 polymorphism and epilepsy. Our data suggest that G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy. The T allele of this polymorphism was found to be a seizure-susceptibility allele for tonic-clonic epilepsy.
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, University of Gaziantep, Gaziantep, Turkey dai.alper@gmail.com.
authors.forename: Alper I
authors.initials: AI
authors.lastname: Dai
authors.affiliation: Faculty of Medicine, Department of Neurology, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Aylin
authors.initials: A
authors.lastname: Akcali
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Safinur
authors.initials: S
authors.lastname: Koska
authors.affiliation: Faculty of Medicine, Department of Medical Biology, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Oztuzcu
authors.affiliation: Faculty of Medicine, Department of Physiology, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Beyhan
authors.initials: B
authors.lastname: Cengiz
authors.affiliation: Faculty of Medicine, Department of Medical Pharmacology, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Abdullah T
authors.initials: AT
authors.lastname: Demiryürek
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000098854:Kcnj10 Channel
chemical_list: D000098854:Kcnj10 Channel; D024661:Potassium Channels, Inwardly Rectifying
keywords: Kir4.1 potassium channel; idiopathic generalized epilepsy; tonic-clonic seizures