| Literature DB >> 30078767 |
Kenneth A Myers1, Ingrid E Scheffer2, Samuel F Berkovic1.
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.Entities:
Keywords: GEFS+; SCN1A; SCN1B; epilepsy; febrile seizures; genetic epilepsy with febrile seizures plus
Mesh:
Year: 2018 PMID: 30078767 DOI: 10.1684/epd.2018.0985
Source DB: PubMed Journal: Epileptic Disord ISSN: 1294-9361 Impact factor: 1.819