Association Between Idiopathic Generalized Epilepsy and EFHC1 Gene Mutations of 662 G>A and 685 T>C

Objective: 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 mutations of various ion and non-ion channel genes in the central nervous system may be associated with IGE. Among these mutations, the ones related to the non-ionic channel gene EFHC1 are controversial (545G>A, 685T>C, 628G>A 757G>T, 229C>A, 662G>A, 520A>G, 776G>A, 829C>T). In this study we investigated the relationship between IGE and 662G>A (R221H) and 685T>C (F229L) mutations in EFHC1 gene in a Turkish population. Material and Methods: The study enrolled 96 healthy volunteers (47 male, 49 female) 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 662G>A (R221H) and 685T>C (F229L) mutations in the exon 4 of EFHC1 gene were analyzed using Real-Time polymerase chain reaction (PCR) (Cobas, Roche Diagnostics, Germany). The results of the control and patient groups were compared statistically. Results: In the patient group there was one heterozygous male with 685T>C mutation. In the control group, there were two subjects with 685T>C mutation; one heterozygous male and one heterozygous female. The control and the patient groups did not have the 662G>A mutation. The difference between the patient and the control groups were not significant (p value for 685 T>C mutation=0.56062; p value for 662G>A mutation=1.00). Conclusion: We found no evidence that EFHC1 is a major genetic factor for the development of IGE in Turkish patients. Our results indicated that 685T>C and 662G>A mutations might not be associated with IJE.