Cited by 68Epilepsy research and treatmentEpigenetics and DNA MethylationGenomics and Chromatin Dynamics

The DOI matches its Crossref record; 188 of the 188 references it cites were found in a registry or an index.

Epigenetic genes and epilepsy — emerging mechanisms and clinical applications

Open access
Van Loo, Karen M. J., Carvill, Gemma L., Becker, Albert J., Conboy, Karen, Goldman, Alica M., Kobow, Katja, Lopes-Cendes, Iscia, Reid, Christopher A., van Vliet, Erwin A., Henshall, David C.·2022·Nature Reviews Neurology

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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Metadata

Authors
Van Loo, K. M. J., Carvill, G. L., Becker, A. J., Conboy, K., Goldman, A. M., Kobow, K., Lopes-Cendes, I., Reid, C. A., van Vliet, E. A., & Henshall, D. C.
Affiliations
  • Northwestern University (US)
  • University of Bonn (DE)
  • Royal College of Surgeons in Ireland (IE)
  • Baylor College of Medicine (US)
  • Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
  • The University of Melbourne (AU)
Corresponding author
Henshall, David C.
Venue
Nature Reviews Neurology
Published
2022-07-20
Volume
18
Issue
9
Pages
530-543
ISSN
  • 1759-4758 (ISSN-L)
  • 1759-4766
OpenAlex
W4286005819
Cited by
68
References
188
Citations by year
2026: 15 · 2025: 18 · 2024: 18 · 2023: 14 · 2022: 3
FWCI
2.28
Type
journal article
Language
en
Open access
Locations
  • Nature Reviews Neurology (publishedVersion)
  • PubMed (publishedVersion)
  • Pure Amsterdam UMC (acceptedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • UvA-DARE (University of Amsterdam) (submittedVersion, other-oa)
  • RWTH Publications (RWTH Aachen) (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Funders
  • European Commission (HORIZON2020, 825348)
  • Science Foundation Ireland (16/RC/3948)
  • Deutsche Forschungsgemeinschaft (FOR‐2715)
  • European Regional Development Fund (16/RC/3948)
Topics
  • Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords
epilepsy, epigenetic genes, DNA methylation, histone modifications, non-coding RNA, chromatin remodeling, genetic variants, gene expression regulation, precision medicine, biofluid biomarkers
MeSH terms
Epilepsy, Histones, Humans, Protein Processing, Post-Translational, DNA Methylation, Epigenesis, Genetic

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