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

doi:10.3390/genes12091316

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

Author(s)

Battaglia, Domenica I

Gambardella, Maria Luigia

Veltri, Stefania

Contaldo, Ilaria

Chillemi, Giovanni

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Date Issued

2021

Type

article

Volume

12

Issue

9

Start Page

1316

DOI

10.3390/genes12091316

Journal

GENES

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.

Handle

http://hdl.handle.net/2067/45969