Neurol. praxi. 2025;26(1):9-16 | DOI: 10.36290/neu.2024.062

Genetics of epilepsies and current possibilities of their genetic diagnostics

Mgr. Natália Forgáčová1, 2, 3, Mgr. Ingrid Lojová1, 2, 3, RNDr. Ján Radvánszky, PhD.1, 2, 3, 4, Mgr. Andrea Zaťková, PhD.1
1 Ústav klinického a translačného výskumu BMC SAV, Bratislava
2 Vedecký park Univerzity Komenského, Bratislava
3 Prírodovedecká fakulta Univerzity Komenského, Bratislava
4 G2 Consulting Slovakia s. r. o., Hviezdoslavov

Epilepsy is a complex neurological disease that affects 40-60 million people worldwide. Multiple genetic factors play a significant role in the pathogenesis of epilepsy, leading to the growing importance of genetics in the field of epileptology. With the development of methodologies using massively parallel sequencing, many DNA variants causing epilepsy have been identified, improving our understanding of the molecular mechanisms involved in the clinical manifestations of genetically determined epilepsies. In this paper, we offer an overview of current but also future possibilities for genetic diagnostics of epilepsy, which, by identifying gene variants in patients with both monogenic and polygenic epilepsy, may open the way to targeted personalized diagnosis and treatment.

Keywords: epilepsy, DNA diagnostics, whole-exome sequencing, whole-genome sequencing.

Received: July 2, 2024; Revised: September 10, 2024; Accepted: September 11, 2024; Prepublished online: September 11, 2024; Published: March 19, 2025  Show citation

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Forgáčová N, Lojová I, Radvánszky J, Zaťková A. Genetics of epilepsies and current possibilities of their genetic diagnostics. Neurol. praxi. 2025;26(1):9-16. doi: 10.36290/neu.2024.062.
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