Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12174
Full metadata record
DC FieldValueLanguage
dc.contributor.authorThomas, Rhys Hen
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2015-05-16T01:49:34Z
dc.date.available2015-05-16T01:49:34Z
dc.date.issued2014-04-15en
dc.identifier.citationNature Reviews. Neurology 2014; 10(5): 283-92en
dc.identifier.govdoc24733163en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12174en
dc.description.abstractUnderstanding the aetiology of epilepsy is essential both for clinical management of patients and for conducting neurobiological research that will direct future therapies. The aetiology of epilepsy was formerly regarded as unknown in about three-quarters of patients; however, massively parallel gene-sequencing studies, conducted in a framework of international collaboration, have yielded a bounty of discoveries that highlight the importance of gene mutations in the aetiology of epilepsy. These data, coupled with clinical genetic studies, suggest a new paradigm for use in the clinic: many forms of epilepsy are likely to have a genetic basis. Enquiry about a genetic cause of epilepsy is readily overlooked in the clinic for a number of understandable but remediable reasons, not least an incomplete understanding of its genetic architecture. In addition, the importance of de novo mutagenesis is often underappreciated, particularly in the epileptic encephalopathies. Other genomic surprises are worth emphasizing, such as the emerging evidence of a genetic contribution to focal epilepsies-long regarded as acquired conditions-and the complex role of copy number variation. The importance of improved understanding of the genetics of the epilepsies is confirmed by the positive outcomes, in terms of treatment selection and counselling, of receiving a genetic diagnosis.en
dc.language.isoenen
dc.subject.otherDNA Copy Number Variations.geneticsen
dc.subject.otherEpilepsy.etiology.geneticsen
dc.subject.otherFamily Healthen
dc.subject.otherGenetic Testingen
dc.subject.otherGenome.geneticsen
dc.subject.otherHumansen
dc.subject.otherMutation.geneticsen
dc.titleThe hidden genetics of epilepsy-a clinically important new paradigm.en
dc.typeJournal Articleen
dc.identifier.journaltitleNature reviews. Neurologyen
dc.identifier.affiliationEpilepsy Research Centre, Melbourne Brain Centre, Department of Medicine, Austin and Northern Health, 245 Burgundy Street, Heidelberg, Vic 3084, Australiaen
dc.identifier.doi10.1038/nrneurol.2014.62en
dc.description.pages283-92en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/24733163en
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

22
checked on Mar 28, 2024

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.