Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series

To evaluate the clinical features of erythromelalgia in childhood associated with gain-of-function SCN9A mutations that increase activity of the Nav1.7 voltage-gated sodium channel, we conducted a systematic review of pediatric presentations of erythromelalgia related to SCN9A mutations, and compared pediatric clinical presentations of symptomatic erythromelalgia, with or without SCN9A mutations.

Source: The Journal of Pediatrics - November 9, 2018 Category: Pediatrics Authors: Luke Arthur, Kirsty Keen, Madeleine Verriotis, Judy Peters, Alison Kelly, Richard F. Howard, Sulayman D. Dib-Hajj, Stephen G. Waxman, Suellen M. Walker Tags: Original Articles Source Type: research