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|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
|Citation:||Epileptic disorders : international epilepsy journal with videotape 2018; online first: 3 August|
|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.|
genetic epilepsy with febrile seizures plus
|Appears in Collections:||Journal articles|
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