Abstract
Introduction: Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome (IGE) with a strong genetic contribution. The main characters of JME are generalized convulsive or an absences seizures proceeded by myoclonic jerks. Gene variant of gamma-aminobutyric acid type A inhibitory receptor speculated to underlay JME etiology.
Objective: This study aimed to screen for JME based on the International League against Epilepsy Commission on Classification and Terminology diagnostic criteria and to assess the link of polymorphism in the GABAA receptor gene, GABRA1 to the development of JME in Sudanese patients.
Methods: Our epidemiological study enrolled 44 JME patients, only 23 participated in the genetic part and 35 matched healthy controls were also included. Blood genomic DNA was isolated and PCR based- restriction fragment length polymorphism (RFLP) analysis was done. The data obtained were analyzed using computer software SPSS 21rt edition.
Results: The frequency of the mutant G allele was found to be 41.5% in patients and 45.5% in the controls. The genotype distribution of A and G alleles among patients were found to be (AA=39%), (AG=39%) and (GG=22%) and that of the controls were (AA=40%), (AG=30%) and (GG=30%).
Conclusion: The mutant G allele of the GABAA1 receptor does not affect the development of JME in Sudanese patients but the AG genotype may be a risk factor.