The study of sodium and potassium channel gene single-nucleotide variation significance in non-mechanical forms of epilepsy

Abstract Background Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs disease are repeated symptomatic or idiopathic epileptic seizures both convulsive non-convulsive nature that develop against a background lost preserved consciousness. genetic component plays large role in etiology forms epilepsy. study molecular basis disorders has led to rapidly growing number gene mutations known be involved hereditary ion channel dysfunction. aim this research was evaluate involvement single-nucleotide variants modify function genes ( SCN1A , KCNT1 KCNTС1 KCNQ2 ) encoding sodium potassium polypeptides development Results De novo c.5347G>A (p. Ala1783Thr) were detected two patients with Dravet syndrome, deletion exon 26 found one. Three de c.2800G>A Ala934Thr), observed temporal lobe epilepsy (TLE) patient residual encephalopathy. Moreover, control cohort matched case did not reveal any SNVs among conditionally healthy individuals, supporting pathogenic significance studied SNVs. Conclusion Our results supported by literature data showing mutation may pathogenesis syndrome. We also note can cause only autosomal dominant nocturnal frontal (ADNFLE) but other To treat pathogenetic accelerate channels, we recommend blockade drug therapy.