Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/18157
Title: Genetic literacy series: genetic epilepsy with febrile seizures plus.
Authors: Myers, Kenneth A;Scheffer, Ingrid E;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, Australia
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Issue Date: 1-Aug-2018
EDate: 2018-08-01
Citation: Epileptic disorders : international epilepsy journal with videotape 2018; 20(4): 232-238
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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/18157
DOI: 10.1684/epd.2018.0985
ORCID: 0000-0001-7831-4593
0000-0002-2311-2174
0000-0003-4580-841X
PubMed URL: 30078767
Type: Journal Article
Subjects: GEFS+
SCN1A
SCN1B
epilepsy
febrile seizures
genetic epilepsy with febrile seizures plus
Appears in Collections:Journal articles

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