Article
Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.
Experimental neurology - 1 Jun 2023
Wimalasena Nivanthika K, Taub Daniel G, Shim Jaehoon, Hakim Sara, Kawaguchi Riki, Chen Lubin, El-Rifai Mahmoud, Geschwind Daniel H, Dib-Hajj Sulayman D, Waxman Stephen G, Woolf Clifford J
Abstract excerpt
Gain-of-function mutations in Scn9a, which encodes the peripheral sensory neuron-enriched voltage-gated sodium channel Nav1.7, cause paroxysmal extreme pain disorder (PEPD), inherited erythromelalgia (IEM), and small fiber neuropathy (SFN). Conversely, loss-of-function mutations in the gene are linked to congenital insensitivity to pain (CIP). These mutations are evidence for a link between altered sodium...
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