Association between idiopathic generalized epilepsy and EFHC1 gene polymorphisms of 662 G>A and 685 T>C

Idiopathic generalized epilepsy (IGE) is an epilepsy form without an underlying brain lesion or neurological indication or symptom. Recent investigations on the genetic origins of IGE and its subtypes report that certain genetic polymorphisms of various ion and non-ion channels genes in the central nervous system may be associated with IGE. Among these polymorphisms, the ones related to the non-ionic channel gene EFHC1 are controversial (545G>A, 685T>C, 628G>A 757G>T, 229C>A, 662 G>A, 520 A>G, 776G>A, 829C>T).In this study we evaluated the relationship between IGE and 662 G>A (R221H) and 685 T>C (F229L) polymorphisms in EFHC1 gene in a Turkish population.The study enrolled 96 healthy volunteers (47 male, 49 female), served as controls, and 96 IGE patients (41 male, 55 female). IGE diagnosis was confirmed in the neurology department. After venous blood sampling, DNA extractions were performed. The presence of 662 G>A (R221H) and 685 T>C (F229L) polymorphisms in the exon 4 of EFHC1 gene were analyzed by Real-Time PCR (Cobas, Roche Diagnostics, Germany). The findings obtained from the control and patient groups were compared.In the patient group there was one heterozygous male with 685 T>C polymorphism. In the control group, there were two objects with 685 T>C polymorphism; one heterozygous male, one heterozygous female. 662 G>A polymorphism was determined in neither controls nor patients.In our series of 96 IGE patients and 96 healthy controls, there was no relation between 662 G>A and 685 T>C polymorphisms in EFHC1 gene and IGE presence.