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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Domenica I Battaglia1,2, Maria Luigia Gambardella1, Stefania Veltri1
1Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy.
Genes
|September 28, 2021
Summary
Cardiofaciocutaneous syndrome (CFCS) patients frequently experience epilepsy, with a 64% prevalence observed. Genotype-phenotype correlations were identified, aiding in better clinical management of epilepsy in this rare disorder.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder.
- It is caused by upregulated RAS-mitogen-activated protein kinase (MAPK) pathway signaling, often due to de novo BRAF mutations.
- Epilepsy is a significant and life-threatening complication in children with CFCS.
Purpose of the Study:
- To define the natural history of epilepsy in Cardiofaciocutaneous syndrome.
- To explore genotype-phenotype correlations related to epilepsy in CFCS patients.
Main Methods:
- An observational study included 34 molecularly confirmed CFCS patients with a mean follow-up of 9.2 years.
- Methods included neurological and cognitive assessments, neuroimaging, electrophysiological studies, and systematic epilepsy feature assessment.
- Correlation analyses considered various clinical and genetic factors.
Main Results:
- Epilepsy was documented in 64% of CFCS cases, a higher prevalence than previously reported.
- Patients were stratified into three groups based on electroclinical features, outcome, and therapy response.
- A genotype-phenotype correlation was found, linking mutation type to epilepsy presence and severity.
Conclusions:
- The study identified a significant prevalence of epilepsy in CFCS patients.
- Genotype-phenotype correlations offer a basis for stratifying patients and improving epilepsy management in CFCS.
- Understanding these correlations is crucial for predicting and managing epilepsy in this syndrome.
Keywords:
BRAFcardiofaciocutaneous syndromeepilepsygenotype–phenotype correlationshyperekplexiastatus epilepticusMore Related Videos
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