Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Cristina BallaElena ConteRita SelvaticiRené Massimiliano MarsanoAndrea GerbinoMarianna FarnèRikard BlunckFrancesco VitaliAnnarita ArmaroliAlessandro BriedaAntonella LiantonioAnnamaria De LucaAlessandra FerliniClaudio RapezziMatteo BertiniFrancesca GualandiPaola ImbriciPublished in: International journal of molecular sciences (2021)
Overall, our results suggest that the degree of loss-of-function shown by the two Nav1.5 mutant channels correlates with the aggressive clinical phenotype of the two probands. This genotype-phenotype correlation is fundamental to set out appropriate therapeutical intervention.