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; Ingrid E Scheffer

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

DOI: 10.1212/WNL.0000000000004384

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%]),..

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University of Melbourne Researchers

Saul Mullen Author Medical Education

Ingrid Scheffer Author Medicine - Austin Health

Bronwyn Grinton Author Medicine - Austin Health

Michael Hildebrand Author Medicine - Austin Health

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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.).