Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/17143
Title: Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Authors: Rigbye, Kristin A;van Hasselt, Peter M;Burgess, Rosemary;Damiano, John A;Mullen, Saul A;Petrovski, Slavé;Puranam, Ram S;van Gassen, Koen L I;Gecz, Jozef;Scheffer, Ingrid E;McNamara, James O;Berkovic, Samuel F;Hildebrand, Michael S
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht 3584, The Netherlands
Florey Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia
Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville, Victoria 3050, Australia
Departments of Neurobiology and Neurology, Duke University Medical Center, Durham, NC 27710, USA
Department of Genetics, University Medical Centre (UMC) Utrecht, Utrecht 3584, The Netherlands
School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia
School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia
Center for Translational Neuroscience, Duke University Medical Center, Durham, NC 27710, USA
Issue Date: Dec-2016
EDate: 2016
Citation: Epilepsy research 2016; 128: 48-51
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-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+.
URI: http://ahro.austin.org.au/austinjspui/handle/1/17143
DOI: 10.1016/j.eplepsyres.2016.10.008
ORCID: 0000-0002-2664-4395
0000-0002-2311-2174
0000-0003-4580-841X
0000-0003-2739-0515
PubMed URL: https://www.ncbi.nlm.nih.gov/pubmed/27810516
Type: Journal Article
Subjects: FGF13
GEFS+
Sequencing
Appears in Collections:Journal articles

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