Dynamics of management of monogenic epilepsies, developmental and epileptic encephalopathies in routine clinical practice

Abstract

Background. There is no doubt that genetic testing should be one of the main studies in modern clinical diagnosis of epileptic syndromes.Aim. To describe and compare the spectrum of detected gene mutations in patients with epilepsy and developmental and epileptic encephalopathies (DEE) over the last 3 years of clinical practice of neurologists-epileptologists, including: analysis of diagnosed epileptic syndromes, timing of etiological diagnosis, treatment options and effectiveness.Materials and methods. A multicenter retrospective study including patients of any age and gender with epilepsy or DEE (with the obligatory presence of epileptic seizures) and verified gene mutations. The analysis was carried out as of 2020 and 2023. Over a three-year period, the number of data received in the study increased and amounted to 100 and 205 patients, respectively, 87–90 % of whom were children under 18 years of age.Results and discussion. Over a three-year period, the number of genes with mutations increased from 67 to 98 variants. The clear leader remains mutations in the SCN1A gene. In practice, the number of referrals for whole exome sequencing has doubled from 9 to 18.6 % and the proportion of patients with mutation confirmation by Sanger sequencing has doubled from 32 % to 50.7 %. Up to 68 % of patients with a confirmed gene mutation are patients with one or another variant of DEE. Approaches to therapy with antiepileptic drugs have not undergone significant changes. but the volume of alternative methods decreased slightly from 52 to 45 %, with an emerging trend toward an increase in the effectiveness of therapy (an increase in the percentage of patients with no seizures from 46 to 54 %).Conclusion. Analytical processing and expansion of experience in the etiological diagnosis of monogenic epilepsies and DEE is reflected in a more targeted selection and effectiveness of therapy for this category of patients.

Keywords

• epilepsy
• developmental and epileptic encephalopathy
• gene mutations
• sequencing