| Abstract [eng] |
Dravet syndrome is a rare form of epilepsy caused by a genetic mutation in the SCN1A gene. It typically manifests in the first year of life with generalized tonic-clonic seizures that can develop into status epilepticus and are frequently triggered by elevated body or environmental temperatures. From ages 2-4, Dravet syndrome is characterized by progressive cognitive, motor, sleep disturbances. The purpose of this study is to outline the key clinical features of Dravet syndrome to facilitate clinical and genetic diagnosis, review current treatment recommendations, and provide five case examples of genetically confirmed Dravet syndrome. A retrospective analysis of five patients with Dravet syndrome was carried out. The clinical data was compared by examining the dominant seizure type and frequency, seizure-provoking factors, developmental changes, treatment strategies. The average age of onset for seizures was 5.4 months, seizures occurred between 1 and 12 times per month. All patients experienced both focal and generalized tonic-clonic seizures, 80% of patients exhibited developmental impairments. All patients received individualized polypharmacotherapy. Stiripentol (used in combination with valproates or clobazam) was administered to 60% of patients, levetiracetam was used in 40% of cases. Fenfluramine or cannabidiol was not utilized, and no specific diet was implemented. In summary, clinical phenotype of the patients corresponds to the most commonly reported cases in the literature. However, the treatment given to the patients examined in this study still varies from the current recommended polypharmacotherapy treatment regimens. As a result, further investigation into diagnostics and innovative Dravet syndrome treatments in Lithuania is necessary. |
