Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

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-t...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470450/
https://www.ncbi.nlm.nih.gov/pubmed/34573299
http://dx.doi.org/10.3390/genes12091316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470450/
https://www.ncbi.nlm.nih.gov/pubmed/34573299
http://dx.doi.org/10.3390/genes12091316

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