Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle SCN4A Mutation (p.Ile693Thr)

Abstract

Skeletal sodium channel mutations have been known to demonstrate a multitude of clinical manifestations of which one such commonly known entity is paramyotonia congenita. We describe the clinical features of proband in our case report and the various phenotypic manifestations described with the mentioned mutation from different centres. Our case serves to highlight the heterogeneity that exists in SCN4A mutations and the possible effect of other genetic/environmental factors in determining the final phenotype.