A new Nav1.7 mutation in an erythromelalgia patient

► A new mutation (Nav1.7-V1316A) was found in a patient diagnosed with erythromelalgia. ► The mutation caused hyperpolarized shifts of activation, slow-inactivation and increased ramp response in patch-clamp. ► These hyperexcitability changes are similar to previously characterized erythromelalgia mutations. ► These changes likely contribute to the painful symptoms.