The most common genes associated with epilepsy in children

Czech version

Authors: Silvia Mináriková; Miriam Kolníková
Authors‘ workplace: Klinika detskej neurológie, Lekárska fakulta, Univerzita Komenského a Národný ústav detských chorôb, Bratislava
Published in: Čes-slov Pediat 2026; 81 (5): 269-275.
Category:
doi: https://doi.org/10.55095/CSPediatrie2026/017

Overview

Epilepsy is one of the most common chronic neurological diseases worldwide. The International League Against Epilepsy classifies etiologies of epilepsy into six main categories: structural, genetic, infectious, metabolic, immune, and unknown. Currently, the genetic etiology is assumed to have the highest prevalence. This finding has been supported by a development of modern genetic testing methods, which have enabled the identification of hundreds of genes associated with epilepsy and clarified their mechanisms of origin at the molecular level. Among the most common genes associated with epilepsies in childhood are SCN1A, KCNQ2, CDKL5, SCN2A, STXBP1, PCDH19, PRRT2, SCN8A, MECP2, and SLC2A1, with the first five accounting for more than half of genetically determined cases. These genes can be divided into five groups based on their pathogenetic mechanisms: ion channel disorders (channelopathies), disorders of synaptic regulation, disorders of gene expression and regulation, metabolic disorders, and abnormalities in neuronal development and migration.

The aim of this article is to provide an overview of the most common genes associated with epilepsy in children, their pathogenetic mechanisms, and clinical correlations.

Keywords:

genes – Genetics – Etiology – Epilepsy – channelopathies

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