Article
Familial gain-of-function Nav1.9 mutation in a painful channelopathy.
Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2017
Han Chongyang, Yang Yang, Te Morsche Rene H, Drenth Joost P H, Politei Juan M, Waxman Stephen G, Dib-Hajj Sulayman D
Abstract excerpt
OBJECTIVE: Gain-of-function mutations in Nav1.9 have been identified in three families with rare heritable pain disorders, and in patients with painful small-fibre neuropathy. Identification and functional assessment of new Nav1.9 mutations will help to elucidate the phenotypic spectrum of Nav1.9 channelopathies. METHODS: Patients from a large family with early-onset pain symptoms were evaluated by clinical...
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