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

Publication ,  Journal Article
Rigbye, KA; van Hasselt, PM; Burgess, R; Damiano, JA; Mullen, SA; Petrovski, S; Puranam, RS; van Gassen, KLI; Gecz, J; Scheffer, IE ...
Published in: Epilepsy Res
December 2016

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+.

Duke Scholars

Published In

Epilepsy Res

DOI

EISSN

1872-6844

Publication Date

December 2016

Volume

128

Start / End Page

48 / 51

Location

Netherlands

Related Subject Headings

  • Seizures, Febrile
  • SOXF Transcription Factors
  • Phenotype
  • Neurology & Neurosurgery
  • Mutation, Missense
  • Male
  • Humans
  • Genetic Testing
  • Genes, X-Linked
  • Fibroblast Growth Factors
 

Citation

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Rigbye, K. A., van Hasselt, P. M., Burgess, R., Damiano, J. A., Mullen, S. A., Petrovski, S., … Hildebrand, M. S. (2016). Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? Epilepsy Res, 128, 48–51. https://doi.org/10.1016/j.eplepsyres.2016.10.008
Rigbye, Kristin A., Peter M. van Hasselt, Rosemary Burgess, John A. Damiano, Saul A. Mullen, Slavé Petrovski, Ram S. Puranam, et al. “Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Epilepsy Res 128 (December 2016): 48–51. https://doi.org/10.1016/j.eplepsyres.2016.10.008.
Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, et al. Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? Epilepsy Res. 2016 Dec;128:48–51.
Rigbye, Kristin A., et al. “Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Epilepsy Res, vol. 128, Dec. 2016, pp. 48–51. Pubmed, doi:10.1016/j.eplepsyres.2016.10.008.
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. Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? Epilepsy Res. 2016 Dec;128:48–51.
Journal cover image

Published In

Epilepsy Res

DOI

EISSN

1872-6844

Publication Date

December 2016

Volume

128

Start / End Page

48 / 51

Location

Netherlands

Related Subject Headings

  • Seizures, Febrile
  • SOXF Transcription Factors
  • Phenotype
  • Neurology & Neurosurgery
  • Mutation, Missense
  • Male
  • Humans
  • Genetic Testing
  • Genes, X-Linked
  • Fibroblast Growth Factors