Neurológia pre prax 2/2026
From genetic diagnostics to gene therapy in epileptology
The field of genetic epilepsies, and especially developmental and/or epileptic encephalopathies, has undergone literally revolutionary changes over the past 15 years. With the rapidly growing number of identified “epilepsy-associated” genes and the increasing understanding of the enormous genotypephenotype variability, modern molecular-genetic methods based on the principle of massive parallel sequencing have been developed and implemented in clinical practice. These methods make it possible to diagnose, etiologically classify, and clinically characterize a wide range of new monogenic entities, to better understand their pathogenetic basis, and, last but not least, to develop innovative therapeutic strategies. The possibilities of so-called individualized therapy have thus already become a reality, and in the case of Dravet syndrome, the first gene therapy has already entered clinical testing.
Keywords: epileptogenetics, developmental and/or epileptic encephalopathy, polygenic risk score, gene therapy, Dravet syndrome.
