Epigenetic Genes and Epilepsy - Emerging Mechanisms and Clinical Applications

Overview

Journal Nat Rev Neurol

Specialty Neurology

Date 2022 Jul 20

PMID 35859062

Authors

Karen M J van Loo

Gemma L Carvill

Albert J Becker

Karen Conboy

Alica M Goldman

Katja Kobow

Iscia Lopes-Cendes

Christopher A Reid

Erwin A van Vliet

David C Henshall

Affiliations

Soon will be listed here.

Abstract

An increasing number of epilepsies are being attributed to variants in genes with epigenetic functions. The products of these genes include factors that regulate the structure and function of chromatin and the placing, reading and removal of epigenetic marks, as well as other epigenetic processes. In this Review, we provide an overview of the various epigenetic processes, structuring our discussion around five function-based categories: DNA methylation, histone modifications, histone-DNA crosstalk, non-coding RNAs and chromatin remodelling. We provide background information on each category, describing the general mechanism by which each process leads to altered gene expression. We also highlight key clinical and mechanistic aspects, providing examples of genes that strongly associate with epilepsy within each class. We consider the practical applications of these findings, including tissue-based and biofluid-based diagnostics and precision medicine-based treatments. We conclude that variants in epigenetic genes are increasingly found to be causally involved in the epilepsies, with implications for disease mechanisms, treatments and diagnostics.

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