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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 | Date: | 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/26878 | DOI: | 10.1146/annurev-genom-120219-074937 | Journal: | Annual review of Genomics and Human Genetics | PubMed URL: | 32339036 | Type: | Journal Article | Subjects: | GWAS epilepsy epilepsy genes genetics genome-wide association study oligogenic models polygenic risk scores repeat expansions |
Appears in Collections: | Journal articles |
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