The association between generalized tonic-clonic seizures and SCN1A, SCN2A and KCNQ2 genes

Generalized tonic clonic seizure (GTCS) epilepsy is a type of disease that constitute 14 % of idiopathic generalized epilepsy (IGE). Previous in vivo studies with generalized tonic clonic seizure (GTCS) epilepsy showed that there is relation between GTCS type of epilepsy and polymorphisms of SCN1A, SCN2A, KCNQ2 ion channel genes. In this study it was aimed to investigate the relation between the genetic mutations of ion channel genes, SCN1A (R1648H), SCN2A (GAL879-881QQQ), KCNQ2 (V182M), and GTCS epilepsy the subtype of IGE. Besides, the relation in between these genes were also investigated. In this study, 75 GTCN epilepsy patients and 75 healthy people as control were included. DNA's of patients and controls were isolated and 26. exon of SCN1A, 19. exon of SCN2A, 9. exon of KCNQ2 genes were amplified by polymerase chain reaction (PCR). PCR products were sequenced and results were analyzed with MEGA (Molecular Evolutionary Genetics Analysis) program. These analysis were statistically evaluated by SHEsis software program. SCN1A (R1648H), SCN2A (GAL879-881QQQ) and KCNQ2 (V182M) polymorphisms were not determined neither in patient nor in control group. R1648P was determined as a new polymorphism of SCN1A gene that found at 1 person in patient group and 3 people in control group as heterozygous. Also in SCN1A gene 134272 A>G polymorphism was determined at 1 person and 134347 G>A polymorphism was determined at another person as heterozygous in control group. Also 105649 G>A polymorphism of SCN2A gene was determined at 1 person in control group and 28704 T>G polymorphism of KCNQ2 gene was determined at 1 person in control group According to our findings, there was no any relationship of GTCS epilepsy with SCN1A (R1648H), SCN2A (GAL879-881QQQ) and KCNQ2 (V182M) polymorphisms and polymorphisms determined in this study.