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Title: Genetic epilepsy with febrile seizures plus: refining the spectrum
Austin Authors: Zhang, Yue-Hua;Burgess, Rosemary;Malone, Jodie P;Glubb, Georgie C;Helbig, Katherine L;Vadlamudi, Lata;Kivity, Sara;Afawi, Zaid;Bleasel, Andrew;Grattan-Smith, Padraic;Grinton, Bronwyn E;Bellows, Susannah T;Vears, Danya F;Damiano, John A;Goldberg-Stern, Hadassa;Korczyn, Amos D;Dibbens, Leanne M;Ruzzo, Elizabeth K;Hildebrand, Michael S ;Berkovic, Samuel F ;Scheffer, Ingrid E 
Affiliation: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Department of Pediatrics, Peking University First Hospital, Beijing, China
Department of Neurology, The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Herston, Queensland Australia
Schneider Children's Medical Center of Israel, Petach Tikvah, Tel Aviv, Israel
Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel
Westmead Hospital, Sydney, New South Wales, Australia
Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia
Department of Neurology, Tel Aviv University, Israel
Women's and Children's Hospital, University of Adelaide, South Australia, Australia
Center for Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Florey Institute of Neurosciences and Mental Health, Melbourne, Victoria, Australia
Issue Date: 19-Sep-2017 2017-08-25
Publication information: Neurology 2017; 89(12):1210-1219
Abstract: Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum. METHODS: We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS+ genes was carried out where possible. We compared our phenotypic and genetic data to those published in the literature over the last 19 years. RESULTS: We identified new phenotypes within the GEFS+ spectrum: focal seizures without preceding febrile seizures (16/409 [4%]), classic genetic generalized epilepsies (22/409 [5%]), and afebrile generalized tonic-clonic seizures (9/409 [2%]). Febrile seizures remains the most frequent phenotype in GEFS+ (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]). One third (50/163 [31%]) of GEFS+ families tested have a pathogenic variant in a known GEFS+ gene. CONCLUSION: As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS+ be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS+ and the classic generalized epilepsies is considerably greater than first thought. The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants.
DOI: 10.1212/WNL.0000000000004384
ORCID: 0000-0002-1121-9513
PubMed URL:
Type: Journal Article
Appears in Collections:Journal articles

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