Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Journal Article

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+.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • December 2016

Published In

Volume / Issue

  • 128 /

Start / End Page

  • 48 - 51

PubMed ID

  • 27810516

Pubmed Central ID

  • 27810516

Electronic International Standard Serial Number (EISSN)

  • 1872-6844

Digital Object Identifier (DOI)

  • 10.1016/j.eplepsyres.2016.10.008

Language

  • eng

Conference Location

  • Netherlands