Genetic–Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies

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Authors: Andra-Giorgiana Zaruha, Patricia Christina Codreanu, Madalin-Codrut Coman, Monica Andreea Novac II, Simona Gabriela Duta-Ion, Ioana Ruxandra Juganaru, Iulian Andrei Hotinceanu, Andra Dan, Livia Mălina Burtavel, Anca-Elena Eftenoiu, Diana Bârcă, Andreea Ionescu
+2 more Cerasela Paraschiv, Viorica-Elena Rădoi
Cited by: 4
References: 100

Abstract

Epilepsy is a heterogeneous neurological disorder with a strong genetic basis, yet recent evidence underscores the critical role of epigenetic mechanisms in its pathogenesis. This review synthesizes current knowledge on how chromatin remodeling, histone modifications, DNA methylation, and transcriptional regulation intersect with classical channelopathies and signaling pathways. We emphasize how epigenetic dysregulation contributes to neuronal excitability and network plasticity, particularly through interactions with mTOR, PI3K-AKT, and GABAergic signaling cascades. The convergence of genetic mutations and epigenetic modifications creates a dynamic landscape in which environmental factors can modify gene expression and contribute to the development of epilepsy. Emerging therapeutic strategies-including epigenetic drugs (HDAC inhibitors, DNMT inhibitors), CRISPR/dCas9-based epigenome editing, and multi-omics approaches-offer promising avenues for precision medicine. This review provides a comprehensive synthesis of genetic and epigenetic mechanisms in epilepsy, examining how these layers interact to produce disease phenotypes and discussing the therapeutic implications of this multilayered regulation.

Fields of Study & Subjects

Epilepsy research and treatment Genomics and Rare Diseases Phosphodiesterase function and regulation

Publication details

Journal / source
Epigenomes
Publisher
MDPI AG
Volume
10
Issue
1
Pages
10–10
Publication date
10 February 2026
Language
EN