Genetic literacy series: genetic epilepsy with febrile seizures plus
Kenneth A. Myers
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
Search for more papers by this authorIngrid E. Scheffer
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Search for more papers by this authorCorresponding Author
Samuel F. Berkovic
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
Correspondence: Samuel Berkovic Epilepsy Research Centre, Level 2, Melbourne Brain Centre, Austin Health, 245 Burgundy St, Heidelberg, VIC 3084, Victoria, Australia <[email protected]>Search for more papers by this authoron behalf of the ILAE Genetics Commission
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.
Search for more papers by this authorKenneth A. Myers
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
Search for more papers by this authorIngrid E. Scheffer
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria
The Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia
Search for more papers by this authorCorresponding Author
Samuel F. Berkovic
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria
Correspondence: Samuel Berkovic Epilepsy Research Centre, Level 2, Melbourne Brain Centre, Austin Health, 245 Burgundy St, Heidelberg, VIC 3084, Victoria, Australia <[email protected]>Search for more papers by this authoron behalf of the ILAE Genetics Commission
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.
Search for more papers by this authorABSTRACT
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.
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