Article
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Epilepsy research - 1 Dec 2016
Rigbye Kristin A, van Hasselt Peter M, Burgess Rosemary, Damiano John A, Mullen Saul A, Petrovski Slavé, Puranam Ram S, van Gassen Koen L I, Gecz Jozef, Scheffer Ingrid E, McNamara James O, Berkovic Samuel F, Hildebrand Michael S
Abstract excerpt
Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial knockout involving 3 of 5 known FGF13 isoforms. Investigation of a mouse model of complete Fgf13 knock-out revealed increased susceptibility to...
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