Article
Genetic epilepsy with febrile seizures plus: Refining the spectrum.
Neurology - 19 Sept 2017
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
Abstract excerpt
OBJECTIVE: 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...
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