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|Title:||Genetic epilepsy with febrile seizures plus: refining the spectrum|
|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|
|Citation:||Neurology 2017; online first: 25 August|
|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.|
|Appears in Collections:||Journal articles|
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