الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Epilepsy is a common neurological disorder with more than 500 associated genes. Childhood epilepsy is mainly treated by antiepileptic drugs with variable response that may be affected by genetic polymorphisms.SCN1A gene encodes voltage-gated sodium channels which are responsible for sodium ion transport in the cells which mediates the initiation and propagation of neuronal action potentials and play a critical rule in the membrane excitability.Hundreds of new SCN1A mutations have been discovered in epilepsy cases, according to numerous research, making it the most prevalent epilepsy-related gene.The present study sought to assess the frequency and pattern of SCN1A polymorphism among Egyptian children with non lesional epilepsy including both AEDs responder and resistant. The study recruited 326 patients with non lesional epilepsy. They comprised 163 patients with AEDs responder and 163 patients with AEDs resistant. In addition, there were 163 age and sex matched healthy children who served as a control group.All participants were subjected to careful history taking, thorough clinical examination and routine laboratory investigations. Genotyping for frequency and pattern of SCN1A polymorphism using PCR techniques was done for all cases.In the current study, no statistically significant differences were found between groups according to sex distribution with females outnumbering males in control and AEDs resistant groups with nearly equal percent of females and males in responder group.Comparison between both patient’s groups regarding the clinical data revealed significantly lower seizure frequency and longer time since last seizure in the responder group when compared with resistant group and more abnormal EEG finding in resistant than in responder cases. There is statistically difference between 2 groups according to Types of seizures with higher Tonic-clonic, myoclonic and absence seizures in resistant cases while tonic and clonic seizures are more in responder cases.Regarding the laboratory data, the present study found significantly lower HB, WBCs count and higher AST and ALT in both patient’s groups in comparison to controls.Conclusion: No significant differences were found between Egyptian children and adolescents with non-lesional epilepsy and healthy controls regarding the frequency of SCN1A-A3184G gene polymorphism.Key words: Polymorphism of the Sodium voltage-gated Channel - Alpha Subunit1 gene (SCN1A p.Thr1067Ala) - Children - Epilepsy.