Neurol. praxi. 2026;27(2):114-118 | DOI: 10.36290/neu.2026.021

From genetic diagnostics to gene therapy in epileptology

MUDr. Ondřej Horák¹, doc. RNDr. Lenka Fajkusová, CSc.², doc. MUDr. Hana Ošlejšková, Ph.D.¹

¹ Klinika dětské neurologie LF MU a FN Brno, Centrum pro epilepsie Brno

² Centrum molekulární biologie a genové terapie, Interní hemato-onkologická klinika LF MU a FN Brno

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.

Received: March 23, 2026; Revised: March 23, 2026; Accepted: March 26, 2026; Prepublished online: March 26, 2026; Published: April 29, 2026  Show citation