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Article

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

Genes - 26 Aug 2021

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

Abstract excerpt

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 to define the natural history of epilepsy in this syndrome and...

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Identifiers

PMID: 34573299
DOI: 10.3390/genes12091316
PMCID: PMC8470450

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