TY - JOUR
T1 - Epigenetic genes and epilepsy - emerging mechanisms and clinical applications
AU - Van Loo, K.M.J.
AU - Carvill, G.L.
AU - Becker, A.J.
AU - Conboy, K.
AU - Goldman, A.M.
AU - Kobow, K.
AU - Lopes-Cendes, I.
AU - Reid, C.A.
AU - van Vliet, E.A.
AU - Henshall, D.C.
N1 - Funding Information: The authors thank G. Cavalleri for helpful advice on genome-wide association studies. The authors thank colleagues and members of the Neurobiology Commission of the International League Against Epilepsy. The authors gratefully acknowledge the following funders: Deutsche Forschungsgemeinschaft (grant no. FOR 2715), a research grant from Science Foundation Ireland (grant no. 16/RC/3948) co-funded under the European Regional Development Fund and by FutureNeuro industry partners, and EPICLUSTER, which is supported by the European Brain Research Area (EBRA) project. EBRA has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 825348. Publisher Copyright: © 2022, Springer Nature Limited.
PY - 2022/9
Y1 - 2022/9
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85134471925&partnerID=8YFLogxK
U2 - https://doi.org/10.1038/s41582-022-00693-y
DO - https://doi.org/10.1038/s41582-022-00693-y
M3 - Review article
C2 - 35859062
SN - 1759-4758
VL - 18
SP - 530
EP - 543
JO - Nature Reviews. Neurology
JF - Nature Reviews. Neurology
IS - 9
ER -