Epileptic Disorders


Genetic literacy series: genetic epilepsy with febrile seizures plus Volume 20, issue 4, August 2018


  • Figure 1
Samuel F. Berkovic on behalf of the ILAE Genetics Commission* 1 *
1 Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
2 Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria
3 The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
* Correspondence: Samuel Berkovic Epilepsy Research Centre, Level 2, Melbourne Brain Centre, Austin Health, 245 Burgundy St, Heidelberg, VIC 3084, Victoria, Australia
* Full list of ILAE Genetics Commission Members:Helen Cross, UCL-Institute of Child Health, Great Ormond Street Hospital for Children, London & Young Epilepsy, Lingfield, UK; Peter De Jonghe, Neurogenetics Group, Department of Molecular Genetics, VIB, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, and Division of Neurology, Antwerp University Hospital, Antwerp, Belgium; Alica Goldman, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA; Ingo Helbig, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, U.S.A. and Department of Neuropediatrics, University Medical Centre Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany; Yuwu Jiang, Department of Pediatrics, Peking University First Hospital, Beijing, China; Mitsuhiro Kato, Department of Pediatrics, Showa University School of Medicine,Tokyo, Japan; Daniel H Lowenstein, Department of Neurology, University of California, San Francisco, USA; Heather C Mefford, Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA; Steve Petrou, The Florey Institute of Neuroscience and Mental Health, Parkville VIC 3052, Australia; Parthasathy Satishchandra, National Institute of Mental Health & Neuro Sciences (NIMHANS), Bangalore, India; Nigel CK Tan, Department of Neurology, National Neuroscience Institute, Singapore, Singapore.

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.