Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
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+.
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Kristin A
KA
Rigbye
Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht 3584, The Netherlands.
Peter M
PM
van Hasselt
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Rosemary
R
Burgess
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
John A
JA
Damiano
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia; Florey Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Saul A
SA
Mullen
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville, Victoria 3050, Australia.
Slavé
S
Petrovski
Departments of Neurobiology and Neurology, Duke University Medical Center, Durham, NC 27710, USA.
Ram S
RS
Puranam
Department of Genetics, University Medical Centre (UMC) Utrecht, Utrecht 3584, The Netherlands.
Koen L I
KL
van Gassen
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.
Jozef
J
Gecz
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia; Florey Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Ingrid E
IE
Scheffer
Departments of Neurobiology and Neurology, Duke University Medical Center, Durham, NC 27710, USA; Center for Translational Neuroscience, Duke University Medical Center, Durham, NC 27710, USA.
James O
JO
McNamara
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Samuel F
SF
Berkovic
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address: michael.hildebrand@unimelb.edu.au.
Michael S
MS
Hildebrand
D002675:Child, Preschool; D015331:Cohort Studies; D004487:Edema / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics*; D005145:Face; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics*; D050172:Genes, X-Linked; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D055760:SOXF Transcription Factors / Q000235:genetics; D003294:Seizures, Febrile / Q000235:genetics*
C095473:SOX18 protein, human; D055760:SOXF Transcription Factors; C108111:fibroblast growth factor 13; D005346:Fibroblast Growth Factors
FGF13; GEFS+; Sequencing