Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/18157
Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Myers, Kenneth A | - |
dc.contributor.author | Scheffer, Ingrid E | - |
dc.contributor.author | Berkovic, Samuel F | - |
dc.date | 2018-08-01 | - |
dc.date.accessioned | 2018-08-07T23:03:13Z | - |
dc.date.available | 2018-08-07T23:03:13Z | - |
dc.date.issued | 2018-08-01 | - |
dc.identifier.citation | Epileptic disorders : international epilepsy journal with videotape 2018; 20(4): 232-238 | - |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/18157 | - |
dc.description.abstract | Genetic 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.iso | eng | - |
dc.subject | GEFS+ | - |
dc.subject | SCN1A | - |
dc.subject | SCN1B | - |
dc.subject | epilepsy | - |
dc.subject | febrile seizures | - |
dc.subject | genetic epilepsy with febrile seizures plus | - |
dc.title | Genetic literacy series: genetic epilepsy with febrile seizures plus. | - |
dc.type | Journal Article | - |
dc.identifier.journaltitle | Epileptic disorders : international epilepsy journal with videotape | - |
dc.identifier.affiliation | Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia | - |
dc.identifier.affiliation | Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, Australia | - |
dc.identifier.affiliation | The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia | - |
dc.identifier.doi | 10.1684/epd.2018.0985 | - |
dc.identifier.orcid | 0000-0001-7831-4593 | - |
dc.identifier.orcid | 0000-0002-2311-2174 | - |
dc.identifier.orcid | 0000-0003-4580-841X | - |
dc.identifier.pubmedid | 30078767 | - |
dc.type.austin | Journal Article | - |
local.name.researcher | Berkovic, Samuel F | |
item.languageiso639-1 | en | - |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.openairetype | Journal Article | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Neurology | - |
Appears in Collections: | Journal articles |
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