Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
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 hyperthermia-induced seizures and epilepsy. Here we investigated whether mutation of FGF13 would explain other cases of GEFS+ compatible with X-linked inheritance. We screened the coding and splice site regions of the FGF13 gene in a sample of 45 unrelated probands where GEFS+ segregated in an X-linked pattern. We subsequently identified a de novo FGF13 missense variant in an additional patient with febrile seizures and facial edema. Our data suggests FGF13 is not a common cause of GEFS+.
Rigbye, KA; van Hasselt, PM; Burgess, R; Damiano, JA; Mullen, SA; Petrovski, S; Puranam, RS; van Gassen, KLI; Gecz, J; Scheffer, IE; McNamara, JO; Berkovic, SF; Hildebrand, MS
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