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العنوان
Potential role of GABAA receptor subunit gene polymorphisms in epilepsy susceptibility and pharmacotherapy /
الناشر
Mohamed Mabrouk Masoud ,
المؤلف
Mohamed Mabrouk Masoud
تاريخ النشر
2015
عدد الصفحات
137 P. :
الفهرس
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Abstract

GABA (gamma - amino butyric acid) receptors have always been an inviting target in the etiology and treatment of epilepsy because of its role as a major inhibitory neurotransmitter in the brain. The aim of our study was to find out the possible role of GABRA1 and GABRG2 genes polymorphism in epilepsy susceptibility and pharmacotherapy. This study included 100 patients with idiopathic epilepsy and 50 healthy control subjects. All patients were assessed using clinical evaluatio, EEG, MRI{u2010}brain and genetic study of GABAA receptor subunit; GABRA1and GABRG2 gene polymorphisms. The genotyping was done by PCR - RFLP methods. The GABRA1 polymorphism conferred high risk for epilepsy susceptibility at genotype ’AG’ (P = 0.001, OR = 0.14, 95% CI = 0.06 - 0.33), ’GG’ (P = 0.001, OR = 0.007, 95% CI = 0.00 - 0.12) and G allele level (P = 0.001, OR = 0.12, 95% CI = 0.06 - 0.23). Moreover this polymorphism was also associated with multiple drug resistance in patients with idiopathic epilepsy for homozygous variant ’GG’ genotype P = 0.018, OR = 7.1, 95% CI = 1.3 - 35.8 and G allele P = 0.027, OR =1.9, 95% CI = 1.1-3.5