Epilepsy and hepatolenticular degeneration

Background. The problem of clarification of the mechanisms of joint formation of epilepsy and extrapyramidal motor defects is of particular interest in the medical community. Aim. To study the relationship of epilepsy with extrapyramidal motor defects in patients with neurological forms of hepatolenticular degeneration (HLD), who have homozygous and compound heterozygous mutations in the ATP7B gene. Materials and methods. A follow-up study of 100 patients with neurological forms of HLD and an analysis of the brain bioelectrical activity (electroencephalography) was performed in 46 of them. The molecular genetic study was carried out using the Sanger sequencing method of the ATP7B gene, the clinical study – taking into account the requirements of the Leicester scale (2001), the identification of the leading syndromes and 4 neurological forms – according to the classification of N.V. Konovalov (1960), neurophysiological (electroencephalography) – on a digital electroencephalograph Biola NeuroScope 420F (Russia) using montage of leads according to the “10–20” system (Jasper, 1954) during visual analysis of electroencephalogram curves with subsequent data processing on a personal com