Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients
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DOI: 10.2340/actadv.v105.42022
Abstract: Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by intermittent attacks of painful, hot, swollen, and red skin,… read more here.
Keywords: erythromelalgia; variants scn9a; primary erythromelalgia; scn9a gene ... See more keywords