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.
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Reprints: Soumya Sundaram, MD, DM, Assistant Professor, Department of Neurology (Pediatric Neurology), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, India (e-mail: email@example.com).
The authors report no conflicts of interest.
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S. Nanda: study concept, design, acquisition of data, and drafting of manuscript; V. Tandon: study design and acquisition of data; R. Menon: critical revision of manuscript; S. Sundaram: study concept, design, supervision, and critical revision of manuscript; M. Nair: supervision and critical revision of manuscript.