Epileptic Disorders


Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force Volume 22, issue 2, April 2020


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1 Institute of Neuropathology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
2 The Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia
3 Swammerdam Institute for Life Sciences, Center for Neuroscience, University of Amsterdam, Amsterdam, The Netherlands
4 Amsterdam UMC, University of Amsterdam, Department of (Neuro)pathology, Amsterdam Neuroscience, Amsterdam, The Netherlands
5 Section for Translational Epilepsy Research, Department of Neuropathology, University of Bonn Medical Center, Bonn, Germany
6 Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, USA
7 Department of Neurology, Baylor College of Medicine, Houston, USA
8 Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
9 Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil
10 La Soukra Medical, Tunis, Tunisia
11 Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, USA
12 Division of Brain Sciences, Imperial College London, London, UK
13 Department of Physiology & Medical Physics and FutureNeuro SFI Research Centre Royal College of Surgeons in Ireland, Dublin, Ireland
* Correspondence: David C. Henshall Department of Physiology & Medical Physics, Royal College of Surgeons in Ireland, 123 St. Stephen's Green, Dublin D02 YN77, Ireland
a Authors contributed equally

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Epigenetics refers broadly to processes that influence medium to long-term gene expression by changing the readability and accessibility of the genetic code. The Neurobiology Commission of the International League Against Epilepsy (ILAE) recently convened a Task Force to explore and disseminate advances in epigenetics to better understand their role and intersection with genetics and the neurobiology of epilepsies and their co-morbidities, and to accelerate translation of these findings into the development of better therapies. Here, we provide a topic primer on epigenetics, explaining the key processes and findings to date in experimental and human epilepsy. We review the growing list of genes with epigenetic functions that have been linked with epilepsy in humans. We consider potential practical applications, including using epigenetic signals as biomarkers for tissue- and biofluid-based diagnostics and the prospects for developing epigenetic-based treatments for epilepsy. We include a glossary of terms, FAQs and other supports to facilitate a broad understanding of the topic for the non-expert. Last, we review the limitations, research gaps and the next challenges. In summary, epigenetic processes represent important mechanisms controlling the activity of genes, providing opportunities for insight into disease mechanisms, biomarkers and novel therapies for epilepsy.