Background. Childhood absence epilepsy (CAE) is a common form of epilepsy in preschool and primary school children, characterized by absences and pathognomonic electroencephalographic signs. The question regarding the characterization of intelligence remains relevant today – as available data are often contradictory.

Aim. To analyse the data obtained during the study using age-matched questionnaires and tests, to assess the frequency of occurrence and clinical course of cognitive disorders and changes in the emotional-volitional sphere in patients with CAE.

Materials and methods. A total 49 patients diagnosed with DAE were observed, divided into two groups according to age: 1) children 4–10 years old (n = 26); 2) children 11–17 years old (n = 23). 24 healthy children were included in the control group. The methods of assessment used were: test for preschoolers “Numbers”, Stroop test, graphic method of M.A. Panfilova “Cactus”, trail making test, WAM questionnaire (well-being, activity, mood), Eysenck questionnaire, and Achenbach questionnaire.

Results. In group 1 of combined diagnostics compared to the control group there were statistically significant deviations in the study of short-term memory, flexibility of cognitive control and emotional sphere of the child. In group 2 of combined diagnostics higher levels of emotional instability, lower overall well-being, and reduced activity and mood scores were identified. The study of the peculiarities of behaviour deviating from the accepted social norm demonstrates that isolation, somatic problems, socialization disorders, attention problems and the index of internal problems are significantly higher in patients with CAE than in the healthy children.

Conclusion. Children with CAE have a significant risk of developing psychopathologic manifestations compared to the general population. Children with CAE need timely additional diagnostics of higher mental functions, which in turn will improve adaptation to living conditions, education and quality of life.

Nowadays, Dravet syndrome is one of the most studied forms of genetic epilepsy. Despite a large number of studies and publications, Dravet syndrome remains a difficult neurological disease to treat. The relationship of epileptogenesis in Dravet syndrome with the activity of sodium channels has been studied, and data on the different effectiveness and ineffectiveness of anticonvulsant drugs with different mechanisms of action have been obtained. Drugs that modify neural transmission, enhance inhibitory transmission, and reduce excitatory transmission, as well as their combination, are more effective. Drugs that reduce the effect of inhibitory transmission (in particular, sodium channel blockers) should not be used. In our opinion, the correct choice of therapy for Dravet syndrome associated with a mutation in the SCN1A gene is possible only from the perspective of understanding the work of neural channels in the brain.

Epilepsy is one of the most common neurological diseases. Despite the availability of modern antiepileptic drugs, up to 30 % of patients fail to achieve control over seizures and develop pharmacoresistancy, which leads to decrease in quality of life, social and professional limitations as well as their stigmatization in society. Epilepsy is closely connected with malfunction of one of the most metabolically active systems of our body – the central nervous system and seizures can be the cause of this metabolic failure as well as its consequence. Metabolomics is a new, rapidly developing scientific area and a promising tool for postgenomic research by studying biological fluids. The study of metabolome is the analysis of the combination of low molecular weight substances (metabolites) of an organism or biological sample, including various substances such as aminoacids, organic acids, sugars, steroids, nucleotides and lipids. This review summarizes the results of studies concerning the role of metabolic disorders in epileptogenesis. The analysis of scientific publications devoted to the assessment of the metabolic profile in epilepsy, the study of its features depending on the phenotype of the disease, and the response to therapy. Probably, further studies of metabolism will allow us to identify new biomarkers that can be used in the process of diagnostic search, in determining the prognosis of the disease and personification of therapy.

The article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of epilepsy in this syndrome, make the presented clinical case relevant and useful for pediatric specialists (neurologists, geneticists, pediatricians). In addition, the article presents the experience of using hormone therapy in the treatment of epilepsy, which also had an effect on the main manifestation of the disease (capillary malformations).

The development of pharmacoresistance in epilepsy in pediatric patients is one of the most pressing problems. For relatively benign forms such as idiopathic generalized epilepsy, drug resistance is not typical. If it occurs in such patients, there is a need for an additional diagnostic search, in which it is possible to identify a double pathology with the presence of a focus of structural damage to the brain involved in epileptogenic processes. The article presents a clinical case of drug-resistant childhood absence epilepsy in a patient with combined pathology.