Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia

Mutations in sodium channel Nav1.7, which is preferentially expressed within dorsal root ganglion and sympathetic ganglion neurons, underlie inherited erythromelalgia (IEM). IEM is characterized by severe pain in the extremities evoked by mild thermal stimuli. Functional studies have demonstrated altered biophysical properties of mutant channels, which decrease the threshold for single action potential and increase high-frequency firing in DRG neurons. IEM may be a model disease that holds lessons for other painful conditions.

Section editors:Frank Porreca – University of Arizona, Tucson, USAMichael Ossipov – University of Arizona, Tucson, USA