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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 | Date: | 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/16818 | DOI: | 10.1212/WNL.0000000000004384 | ORCID: | 0000-0002-1121-9513 0000-0003-4580-841X 0000-0002-2311-2174 |
Journal: | Neurology | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/28842445 | Type: | Journal Article |
Appears in Collections: | Journal articles |
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