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Potential role of GABAA receptor subunit gene polymorphisms in epilepsy susceptibility and pharmacotherapy / Mohamed Mabrouk Masoud ; Supervised Mahmoud Mohamed Allam , Hatem Anwer Elmasry , Almetwally AIy Youssef

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Mohamed Mabrouk Masoud , 2015Description: 137 P. : facsimiles ; 25cmOther title:
  • الدور المحتمل للتعدد الشكلى لمستقبلات جابا الفرعية فى قابلية الإصابة بالصرع مجهول السبب و العلاج الدوائى [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Neurology Summary: 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
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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.20.Ph.D.2015.Mo.P (Browse shelf(Opens below)) Not for loan 01010110067863000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.20.Ph.D.2015.Mo.P (Browse shelf(Opens below)) 67863.CD Not for loan 01020110067863000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Neurology

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

Issued also as CD

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