Epilepsy and <i>BRAF</i> Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

ABSTRACT:

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 exploring genotype-phenotype correlations.

Methods

We performed an observational study, including 34 patients with molecularly confirmed diagnosis (11 males, mean age: 15.8 years). The mean follow-up period was 9.2 years. For all patients, we performed neurological examination, cognitive assessment when possible, neuroimaging, electrophysiological assessment and s

SUBMITTER: Battaglia DI 

PROVIDER: S-EPMC8470450 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature