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https://ahro.austin.org.au/austinjspui/handle/1/18157| Title: | Genetic literacy series: genetic epilepsy with febrile seizures plus. | Austin 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 | Date: | 2018-08-01 | Publication information: | 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: | https://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 |
Journal: | Epileptic disorders : international epilepsy journal with videotape | 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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