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Title: The Genetics of Epilepsy.
Austin Authors: Perucca, Piero ;Bahlo, Melanie;Berkovic, Samuel F 
Affiliation: Department of Medical Biology, The University of Melbourne, Melbourne, Victoria 3010, Australia
Epilepsy Research Centre
Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria 3000, Australia
Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, Victoria 3050, Australia
Department of Neurology, Alfred Health, Melbourne, Victoria 3000, Australia
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia
Issue Date: 31-Aug-2020 2020-04-27
Publication information: Annual Review of Genomics and Human Genetics 2020; 21: 205-230
Abstract: Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic, and immune etiologies; however, in most people with epilepsy, no obvious cause is identifiable. Based initially on family studies and later on advances in gene sequencing technologies and computational approaches, as well as the establishment of large collaborative initiatives, we now know that genetics plays a much greater role in epilepsy than was previously appreciated. Here, we review the progress in the field of epilepsy genetics and highlight molecular discoveries in the most important epilepsy groups, including those that have been long considered to have a nongenetic cause. We discuss where the field of epilepsy genetics is moving as it enters a new era in which the genetic architecture of common epilepsies is starting to be unraveled.
DOI: 10.1146/annurev-genom-120219-074937
Journal: Annual review of Genomics and Human Genetics
PubMed URL: 32339036
Type: Journal Article
Subjects: GWAS
epilepsy genes
genome-wide association study
oligogenic models
polygenic risk scores
repeat expansions
Appears in Collections:Journal articles

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