Journal article
Genetic epilepsy with febrile seizures plus Refining the spectrum
Yue-Hua Zhang, Rosemary Burgess, Jodie P Malone, Georgie C Glubb, Katherine L Helbig, Lata Vadlamudi, Sara Kivity, Zaid Afawi, Andrew Bleasel, Padraic Grattan-Smith, Bronwyn E Grinton, Susannah T Bellows, Danya F Vears, John A Damiano, Hadassa Goldberg-Stern, Amos D Korczyn, Leanne M Dibbens, Elizabeth K Ruzzo, Michael S Hildebrand, Samuel F Berkovic Show all
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2017
Abstract
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 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%]),..
View full abstractRelated Projects (6)
Grants
Awarded by National Health and Medical Research Council of Australia
Funding Acknowledgements
This work was supported by the National Health and Medical Research Council of Australia (Program Grant 628952, 2011-2015, to S.F.B., I.E.S., L.M.D.; Program Grant 1091593, 2016-2020, to S.F.B. and I.E.S.), Australia Fellowship (466671 to S.F.B.), Senior Practitioner Fellowship (1006110, 2011-2015; 1104831, 2016-2020; to I.E.S.), and Career Development Fellowship (1032603 to LMD and 1063799 to M.S.H.).