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

Published

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

International Standard Serial Number (ISSN)

  • 0920-1211

Digital Object Identifier (DOI)

  • 10.1016/j.eplepsyres.2016.10.008

Language

  • eng