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.
Battaglia, D.i., Gambardella, M.l., Veltri, S., Contaldo, I., Chillemi, G., Veredice, C., et al. (2021). Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations. GENES, 12(9), 1316 [10.3390/genes12091316].
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Chillemi, Giovanni;
2021-01-01
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.| File | Dimensione | Formato | |
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