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

KA Rigbye; PM van Hasselt; R Burgess; JA Damiano; SA Mullen; S Petrovski; RS Puranam; KLI van Gassen; J Gecz; IE Scheffer; JO McNamara; SF Berkovic; MS Hildebrand

Journal article

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

KA Rigbye, PM van Hasselt, R Burgess, JA Damiano, SA Mullen, S Petrovski, RS Puranam, KLI van Gassen, J Gecz, IE Scheffer, JO McNamara, SF Berkovic, MS Hildebrand

Epilepsy Research | ELSEVIER SCIENCE BV | Published : 2016

DOI: 10.1016/j.eplepsyres.2016.10.008

Abstract

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-linke..

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University of Melbourne Researchers

Slave Petrovski Author

Ingrid Scheffer Author

Sam Berkovic Author

Michael Hildebrand Author

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Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

We thank the patients and families for their participation in this study. Elena Aleksoska (Epilepsy Research Centre, University of Melbourne) is acknowledged for performing genomic DNA extractions. This study was supported by National Health and Medical Research Council Program Grant (628952) to S.F.B and I.E.S, a Practitioner Fellowship (1006110) to I.E.S and a R.D Wright Career Development Fellowship (1063799) to M.S.H.