African Health Sciences
Makerere University Medical School
Vol. 15, No. 4, 2015, pp. 1204-1210
Bioline Code: hs15166
Full paper language: English
Document type: Research Article
Document available free of charge
African Health Sciences, Vol. 15, No. 4, 2015, pp. 1204-1210
© Copyright 2015 - African Health Sciences
No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy.|
Berrin, Tuğrul; Hikmet, Yılmaz; Gülşen, Vatandaş; Ferda, Bozyiğit; Erdal, Balcan & Ece, Onur
Background: 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 channels genes in the central nervous system may be associated with IGE.
Purpose: In this study we evaluated the relation between IGE and S430Y polymorphism in EFHC2 gene in a Turkish
Material/Methods: 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. DNA extractions were performed. The
presence of S430Y polymorphism in the exon 9 of EFHC2 gene were analyzed by Real-Time PCR. The findings obtained
from the control and patient groups were compared.
Results: In the patient group there was one heterozygous male with 685 T>C mutation. In the control group, there were
two objects with 685 T>C mutation; one heterozygous male, one heterozygous female. 662 G>A mutation was determined
in neither controls nor patients.
Conclusion: In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism
in EFHC2 gene and IGE presence.
EFHC2 gene polymorphism; idiopathic generalized epilepsy