Genetic epilepsy with febrile seizures plus

Neurology Journal

Fecha de publicación: September 20, 2017

DOI:  http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000004384

Autores: Yue-Hua Zhang, MD, PhD, Rosemary Burgess, PhD, Jodie P. Malone, MPhil, Georgie C. Glubb, BSc, Katherine L. Helbig, MS, Lata Vadlamudi, MBBS, PhD, Sara Kivity, MD, Zaid Afawi, MD, PhD, Andrew Bleasel, MBBS, PhD, Padraic Grattan-Smith, MBBS, Bronwyn E. Grinton, BSc, Susannah T. Bellows, MPsych, Danya F. Vears, PhD, John A. Damiano, BSc, Hadassa Goldberg-Stern, MD, Amos D. Korczyn, MD, Leanne M. Dibbens, PhD, Elizabeth K. Ruzzo, PhD, Michael S. Hildebrand, PhD, Samuel F. Berkovic, MD, FRS and Ingrid E. Scheffer, MBBS, PhD

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.

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