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Title: | Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? | Austin 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, Austin Health, The University of Melbourne, 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 | Date: | 2016 | Publication information: | 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: | https://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 |
Journal: | Epilepsy research | PubMed URL: | 27810516 | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/27810516 | Type: | Journal Article | Subjects: | FGF13 GEFS+ Sequencing |
Appears in Collections: | Journal articles |
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