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.

The article presents an overview of current literature data on the description of risk factors, epidemiology, etiology, clinical presentation, diagnosis, prevention and treatment of cerebral palsy (CP).

Cerebral palsy is the most common pathology that leads to disability in childhood, with impaired motor function as a result of damage to the central nervous system. With CP, there is a wide range of disorders that disrupt the daily activities of the child. In addition, cognitive and behavioral problems, communication disorders, and the appearance of epileptic seizures are possible. Previously it was believed that the cause of CP is a lack of oxygen at birth. However, modern research has established that, along with this, there are many other causes and risk factors that together cause brain damage during ontogenesis and contribute to the development of the pathological process. This literature review aims to highlight current developments in the field of CP and identify new avenues for future research in this area.

The authors searched, analyzed and systematized the results of domestic and foreign studies of selective serotonin reuptake inhibitors-induced QT prolongation and the risk of Torsade de pointes (full-text versions of original articles, clinical cases, systemic reviews, meta-analyses, Cochrane reviews) in Russian and English languages available in bibliographic databases (eLIbRARY, PubMed, Scopus, Springer, ClinicalKeys, Oxford Press, Google Scholar, MedCredit, Drugbank, PharmGKb) to update the knowledge of practicing neurologists, cardiologists, clinical pharmacologists and general practitioners (physicians, pediatricians) about the possibility of predicting and preventing life-threatening cardiac adverse reactions. From the obtained results it can be judged that escitalopram and citalopram have a potentially high risk. Despite of the fact that sertraline is approved to use in children and adolescents both in the Russian Federation as well as abroad, studies show it significantly affects the QT interval at therapeutic and toxic doses. The safety was demonstrated by fluvoxamine and fluoxetine. Studies of these selective serotonin reuptake inhibitors didn’t show a statistically significant increase of the QT interval.

The article presents a case report of a child with a combination of two ultra rare diseases: nephropathic cystinosis and moya-moya disease.

Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein cystinosin. The lack of functional cystinosin causes accumulation and crystallization of cystine within the lysosomes, which leads to apoptosis and tissue damage in all organs. The disease is characterized by renal (Fanconi syndrome with progressive decline in renal function) and extrarenal manifestations in the form of hypothyroidism, hypogonadism, insulin-dependent diabetes mellitus, coronary vascular calcification, metabolic bone disease, damage to the central nervous system with cortical atrophy, cerebral calcification and etc.

Moya-moya disease is a progressive condition that can lead to ischemic stroke or intracranial hemorrhage in children and adults. The following types of this condition are distinguished: moya-moya disease primary (idiopathic) refers to patients with angiographic evidence of the disease, who may have a genetic predisposition, but do not have concomitant diseases and moya-moya syndrome – angiographic changes in patients are the same as in patients with moya-moya disease, but there is an underlying disease that is the cause.

We analyzed the probable changes in the central nervous system during cystinosis and concluded that the underlying disease cannot be the cause of the identified changes and when observing this patient, we encountered two independent conditions, which required a team approach to determining treatment tactics and further observation.

Timely diagnosis made it possible to improve the further prognosis of the disease, but also the patient’s quality of life, stop episodes of cerebral ischemia, and prevent the development of neurological deficits.

The syndrome of mental retardation with congenital anomalies of type 99, limited to the female sex (OMIM: 300968) is an X-linked dominant disorder of the development of the central nervous system, characterized by delayed psychomotor development and mild or moderate mental retardation.

In the article, a clinical case of a 2-year-old 8-month-old patient with mental retardation syndrome and type 99 congenital anomalies characteristic only of the female sex (OMIM: 300968) is presented. Due to the heterozygous carriage of a previously undescribed pathogenic variant with a reading frame shift in the X-linked USP9X gene associated with a type 99 developmental disorder with dominant inheritance, in chrX:41196714AATTG>A, ENST00000378308, C.4214_4217delATT.P.Asp1405fs. The pathogenic variant was confirmed in the child in the study of the trio by Sanger. It is absent from the parents (a new pathogenic variant). Along with cognitive impairments, the patient revealed congenital anomalies, some of which coincided with those previously described. There were also some special features: the asymmetry of the skull in the described patient was expressed in the parietal part of the skull, and not the facial one, as described in previous publications. Secondary mitochondrial disorders were revealed during the study of the activity of mitochondrial enzymes in peripheral blood lymphocytes, which are an “enzymatic mirror” of tissues, which is an indication for the appointment of energotropic drugs (succinic acid and carnitine).