THE RARE MUTATIONS IN EPILEPTIC ENCEPHALOPATHY IN CHILDREN: GENOTYPE-PHENOTYPE CORRELATIONS
The patients (N=12) with epilepsy, psychomotor and speech development delay were examined togethp er with the geneticists in the psycho-neurological department of the St.Luka Scientific and Practical Center of Specialized Medical Care for Children. The observation included phenotypic analysis: type of seizures, cognitive and behavioral disorders, video electroencephalography (video-EEG), magnetic resonance imaging of the brain (MRI), facial dysmorphia, perinatal hystory, and targeted exome sequencing of genes panel associated with epileptic encephalopathy (NGS). Long-term medical support and phenotype analysis of patients with epileptic encephalopathy did not allow diagnosing the known monogenic forms of epilepsy. The pathogenic variants were detected in the following genes: PCDH19 (n = 1), ALDH7A1 (n = 1), SCN2A (n = 2), GRIN2B (n = 2), DOCK7 (n = 2), HCN1 (n = 1), CNTNAP2 (n = 2), DLGAP2 (n = 1). The appearance data in the literature regarding new mutations and forms of epileptic encephalopathy shows necessary to perform targeted exome sequencing of genes panel in a similar clinical picture of the disease and analyze genotype-phenotypic correlations in each individual case.