Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
About this item
Full title
Author / Creator
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 and Zampino, Giuseppe
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Objective: 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...
Alternative Titles
Full title
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8470450
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8470450
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12091316
