LAUSR

Relevance Disclosure of genetic aspects of epilepsy is necessary for a clear understanding of the etiology and pathogenesis of this disease, the search for new ways of correction. Objective to study the molecular and genetic aspects of epileptic encephalopathy and symptomatic epilepsy in children. Materials and methods We have analyzed 30 indicators of gene polymorphism SCN1A among 20 studied children with epileptic encephalopathy and 20 healthy children. Results Of the total sample of patients with epileptic encephalopathy in children (n = 20) polymorphism 3184 A-G met in the homozygous state (3184 ∗ A/ ∗ A) in 8 patients (40%) in the heterozygous state (3184 ∗ A/ ∗ G) - 11 (56%) and homozygous genotype (3184 ∗ G/ ∗ G) was identified in only 1 patient (4%). In healthy children (n = 20) polymorphism 3184 A-G met in the homozygous state (3184 ∗ A/ A) in 6 patients (60%) in the heterozygous state (3184 ∗ A/ ∗ G) - in 4 (40%). Conclusion Thus, considering all of the above it can be concluded mutations and polymorphisms in the gene SCN1A neuronal sodium channel leads to an increase in recovery time channel activity after inactivation and, as a consequence, provoke neuronal hyper excitability. We observed changes in the nucleotide sequence of the gene SCN1A that can make some contribution to the development of susceptibility to epileptic encephalopathy in children Uzbek nationality.