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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Perucca, Piero | - |
dc.contributor.author | Bahlo, Melanie | - |
dc.contributor.author | Berkovic, Samuel F | - |
dc.date | 2020-04-27 | - |
dc.date.accessioned | 2021-06-28T06:12:56Z | - |
dc.date.available | 2021-06-28T06:12:56Z | - |
dc.date.issued | 2020-08-31 | - |
dc.identifier.citation | Annual Review of Genomics and Human Genetics 2020; 21: 205-230 | en |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/26878 | - |
dc.description.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. | en |
dc.language.iso | eng | |
dc.subject | GWAS | en |
dc.subject | epilepsy | en |
dc.subject | epilepsy genes | en |
dc.subject | genetics | en |
dc.subject | genome-wide association study | en |
dc.subject | oligogenic models | en |
dc.subject | polygenic risk scores | en |
dc.subject | repeat expansions | en |
dc.title | The Genetics of Epilepsy. | en |
dc.type | Journal Article | en |
dc.identifier.journaltitle | Annual review of Genomics and Human Genetics | en |
dc.identifier.affiliation | Department of Medical Biology, The University of Melbourne, Melbourne, Victoria 3010, Australia | en |
dc.identifier.affiliation | Epilepsy Research Centre | en |
dc.identifier.affiliation | Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria 3000, Australia | en |
dc.identifier.affiliation | Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, Victoria 3050, Australia | en |
dc.identifier.affiliation | Department of Neurology, Alfred Health, Melbourne, Victoria 3000, Australia | en |
dc.identifier.affiliation | Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia | en |
dc.identifier.doi | 10.1146/annurev-genom-120219-074937 | en |
dc.type.content | Text | en |
dc.identifier.pubmedid | 32339036 | |
local.name.researcher | Berkovic, Samuel F | |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.openairetype | Journal Article | - |
item.languageiso639-1 | en | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.dept | Neurology | - |
crisitem.author.dept | Comprehensive Epilepsy Program | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Neurology | - |
Appears in Collections: | Journal articles |
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