Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/17143
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dc.contributor.authorRigbye, Kristin A-
dc.contributor.authorvan Hasselt, Peter M-
dc.contributor.authorBurgess, Rosemary-
dc.contributor.authorDamiano, John A-
dc.contributor.authorMullen, Saul A-
dc.contributor.authorPetrovski, Slavé-
dc.contributor.authorPuranam, Ram S-
dc.contributor.authorvan Gassen, Koen L I-
dc.contributor.authorGecz, Jozef-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorMcNamara, James O-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorHildebrand, Michael S-
dc.date2016-
dc.date.accessioned2018-02-07T22:35:18Z-
dc.date.available2018-02-07T22:35:18Z-
dc.date.issued2016-12-
dc.identifier.citationEpilepsy research 2016; 128: 48-51-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/17143-
dc.description.abstractMutation 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+.-
dc.language.isoeng-
dc.subjectFGF13-
dc.subjectGEFS+-
dc.subjectSequencing-
dc.titleIs FGF13 a major contributor to genetic epilepsy with febrile seizures plus?-
dc.typeJournal Article-
dc.identifier.journaltitleEpilepsy research-
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia -
dc.identifier.affiliationDepartment of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht 3584, The Netherlands-
dc.identifier.affiliationFlorey Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia-
dc.identifier.affiliationDepartment of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville, Victoria 3050, Australia-
dc.identifier.affiliationDepartments of Neurobiology and Neurology, Duke University Medical Center, Durham, NC 27710, USA-
dc.identifier.affiliationDepartment of Genetics, University Medical Centre (UMC) Utrecht, Utrecht 3584, The Netherlands-
dc.identifier.affiliationSchool of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia-
dc.identifier.affiliationSchool of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia-
dc.identifier.affiliationCenter for Translational Neuroscience, Duke University Medical Center, Durham, NC 27710, USA-
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/27810516-
dc.identifier.doi10.1016/j.eplepsyres.2016.10.008-
dc.identifier.orcid0000-0002-2664-4395-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0003-4580-841X-
dc.identifier.orcid0000-0003-2739-0515-
dc.identifier.pubmedid27810516-
dc.type.austinJournal Article-
local.name.researcherBerkovic, Samuel F
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
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