Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/26878
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dc.contributor.authorPerucca, Piero-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorBerkovic, Samuel F-
dc.date2020-04-27-
dc.date.accessioned2021-06-28T06:12:56Z-
dc.date.available2021-06-28T06:12:56Z-
dc.date.issued2020-08-31-
dc.identifier.citationAnnual Review of Genomics and Human Genetics 2020; 21: 205-230en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/26878-
dc.description.abstractEpilepsy 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.isoeng
dc.subjectGWASen
dc.subjectepilepsyen
dc.subjectepilepsy genesen
dc.subjectgeneticsen
dc.subjectgenome-wide association studyen
dc.subjectoligogenic modelsen
dc.subjectpolygenic risk scoresen
dc.subjectrepeat expansionsen
dc.titleThe Genetics of Epilepsy.en
dc.typeJournal Articleen
dc.identifier.journaltitleAnnual review of Genomics and Human Geneticsen
dc.identifier.affiliationDepartment of Medical Biology, The University of Melbourne, Melbourne, Victoria 3010, Australiaen
dc.identifier.affiliationEpilepsy Research Centreen
dc.identifier.affiliationDepartment of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria 3000, Australiaen
dc.identifier.affiliationDepartments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, Victoria 3050, Australiaen
dc.identifier.affiliationDepartment of Neurology, Alfred Health, Melbourne, Victoria 3000, Australiaen
dc.identifier.affiliationPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australiaen
dc.identifier.doi10.1146/annurev-genom-120219-074937en
dc.type.contentTexten
dc.identifier.pubmedid32339036
local.name.researcherBerkovic, Samuel F
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptNeurology-
crisitem.author.deptComprehensive Epilepsy Program-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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