Article
Correction of sodium channel mutations in sensory neurons reverses aberrant properties.
Brain : a journal of neurology - 3 Oct 2025
Shim Jaehoon, Tanaka Brian, Taub Daniel G, Mis Malgorzata A, Schulman Betsy R, Snavely Andrew, Cheng Yung-Chih, Laedermann Cedric, Buttermore Elizabeth D, Ren Alexander, Hermawan Crystal, Dou Dan, Kawaguchi Riki, Geschwind Daniel H, Dib-Hajj Sulayman, Waxman Stephen G, Woolf Clifford J
Abstract excerpt
Inherited erythromelalgia, small fibre neuropathy and paroxysmal extreme pain disorder are caused by gain-of-function mutations in the voltage-gated sodium channel Nav1.7. It remains unknown how different mutations in the same channel enhancing electrogenesis in sensory neurons results in such distinct disease presentations. Most of the work analysing the impact of these mutations on electrophysiological...
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