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.
This study was designed to assess the relation single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11 + 15 A > G (rs2279020) genes with epilepsy susceptibility and antiepileptic drugs (AEDs) resistance.
This study was done in pediatric neurology out-patient clinic, Beni-Suef University from 2014 to 2016. The present study is a case control one, it was conducted on 80 patients with epilepsy47 males (58.75%) and 33 females (41.25%) with age ranging from 2 to 13 years old with a mean age 5.1 years ±3.2. Control group included 40 normal subjects, their mean age 4.9 years ±2.9. The two groups were age and sex matched.
All patients were subjected to the following:
1- Full history taking with special attention to type, duration & frequency of seizures, number of antiepileptic drugs and compliance of patient.
2-Thorough clinical examination include complete general and neurological examination.
3- EEG and Brain imaging.
4-Genetic study: All patients and controls were subjected to genetic study polymorphism methods to investigate GABRA1 IVS11 + 15 A > G (rs2279020) genes using the PCR-RFLP method.
The results of the present study revealed the following:
No statistically significant difference between AG, GG genotypes or G allele frequencies of GABRA1 polymorphism when comparing epileptic patients versus controls.
The G allele frequency of GABRA1 polymorphism was significantly increased in patients with focal epilepsy and patients with clonic epilepsy when compared to controls.
The frequencies of AG genotype as well as for variant G allele of GABRA1 was significantly higher in drug resistant epilepsy patients compared to drug responsive epilepsy patients and GG genotype frequency is higher in drug resistant epilepsy patients compared to drug responsive epilepsy patients but p value was not significant.
Generalized epilepsy with epileptic spasm was highly significant in drug resistant epilepsy patients comparing with drug responsive epilepsy patients.
By comparing clinical parameters among symptomatic (47.50%), cryptogenic (8.75%) and idiopathic (47.75%), we found that Symptomatic epilepsy patients were younger age and had early onset of seizures than idiopathic and cryptogenic epilepsy patients.