Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/18157
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dc.contributor.authorMyers, Kenneth A-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBerkovic, Samuel F-
dc.date2018-08-01-
dc.date.accessioned2018-08-07T23:03:13Z-
dc.date.available2018-08-07T23:03:13Z-
dc.date.issued2018-08-01-
dc.identifier.citationEpileptic disorders : international epilepsy journal with videotape 2018; 20(4): 232-238-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/18157-
dc.description.abstractGenetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which affected individuals within a family typically have a variety of epilepsy phenotypes, varying from simple febrile seizures and febrile seizures plus with a good outcome to severe epileptic encephalopathies. Here, we review the spectrum of epilepsy phenotypes, the genetic architecture of GEFS+, and the implicated genes. Using an illustrative clinical case study, we describe important steps in managing patients with GEFS+: making the diagnosis of GEFS+, appropriate genetic testing, and counselling.-
dc.language.isoeng-
dc.subjectGEFS+-
dc.subjectSCN1A-
dc.subjectSCN1B-
dc.subjectepilepsy-
dc.subjectfebrile seizures-
dc.subjectgenetic epilepsy with febrile seizures plus-
dc.titleGenetic literacy series: genetic epilepsy with febrile seizures plus.-
dc.typeJournal Article-
dc.identifier.journaltitleEpileptic disorders : international epilepsy journal with videotape-
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationDepartment of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, Australia-
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia-
dc.identifier.doi10.1684/epd.2018.0985-
dc.identifier.orcid0000-0001-7831-4593-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.pubmedid30078767-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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