Why the study?
Skeletal sodium channel mutations demonstrate diverse clinical manifestations, prompting a review to highlight phenotypic heterogeneity and potential genetic or environmental modifying factors in SCN4A mutations.
This case report highlights the phenotypic heterogeneity of the SCN4A p.Ile693Thr mutation in paramyotonia congenita.
SCN4A phenotypic variability cautions prognosis; leaves open modifier effects and requires validation before practice change.
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.
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Nanda et al. (2019) studied this question.
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