Review
Exp. Biol. Med.
Sec. Neuroscience
Genetics of Epilepsy
- KP
Kynen Piacentini 1
- AG
Anthanasios Gaitatzis 1
- SK
Sulev Kõks 1,2
1. Perron Institute for Neurological and Translational Science, Perth, Australia
2. Murdoch University, Murdoch, Australia
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Abstract
Epilepsy is one of the most common neurological diseases in the world, but it is also complex and difficult to study. There is a significant genetic component to epilepsy and more information is being published frequently. It is difficult to group and summarise all of this information in a way that is beneficial for both researchers and clinicians. The aim of this paper is to create a summary of all currently known epilepsy associated genes in order to aid epilepsy research to better understand the aetiology of the disease. This was achieved through gathering genetic data from three databases: Online Mendelian Inheritance in Man (OMIM), Clincal Genome (ClinGen), and PubMed. Genes were filtered based on specific criteria and were summarised into three tables: Epilepsy genes, Epilepsy associated genes and Predicted epilepsy associated genes. A fourth table was produced to showcase all epilepsy genes that were identified in all three databases. A total of 2,536 genes were identified to have some level of association with epilepsy. A total of 238 genes were classified as Epilepsy genes, 1,317 genes were classified as Epilepsy associated genes and 981 genes were classified as Predicted epilepsy genes. Finally, 86 genes were identified to be epilepsy genes that were found in all three genetic databases and represent the highest confidence in association with epilepsy. The significance of this study involves the ability to give researchers an up-to-date list of genes that have an association to epilepsy and a summary of information about said genes.
Summary
Keywords
disease phenotype, Epilepsy, epilepsy associated genes, inheritance pattern, predicted epilepsy associated genes
Received
15 December 2025
Accepted
04 March 2026
Copyright
© 2026 Piacentini, Gaitatzis and Kõks. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Kynen Piacentini; Sulev Kõks
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