Please use this identifier to cite or link to this item: http://hdl.handle.net/2067/45969
Title: Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Authors: Battaglia, Domenica I
Gambardella, Maria Luigia
Veltri, Stefania
Contaldo, Ilaria
Chillemi, Giovanni 
Veredice, Chiara
Quintiliani, Michela
Leoni, Chiara
Onesimo, Roberta
Verdolotti, Tommaso
Radio, Francesca Clementina
Martinelli, Diego
Trivisano, Marina
Specchio, Nicola
Dravet, Charlotte
Tartaglia, Marco
Zampino, Giuseppe
Journal: GENES 
Issue Date: 2021
Abstract: 
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with CFCS are prone to epilepsy, which is a major life-threatening complication. The aim of our study was to define the natural history of epilepsy in this syndrome and exploring genotype-phenotype correlations.
URI: http://hdl.handle.net/2067/45969
ISSN: 2073-4425
DOI: 10.3390/genes12091316
Appears in Collections:A1. Articolo in rivista

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