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