A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

Abstract

OBJECTIVE Human and animal studies have shown that Na(v)1.7 sodium channels, which are preferentially expressed within nociceptors and sympathetic neurons, play a major role in inflammatory and neuropathic pain. Inherited erythromelalgia (IEM) has been linked to gain-of-function mutations of Na(v)1.7. We now report a novel mutation (V400M) in a three… (More)
DOI: 10.1002/ana.21678

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