Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

By Yong Yang, Yang Wang, Shilin Li, Z. Xu, H. Li, L. Ma, J. Fan, D. Bu, Bingya Liu, Z. Fan and 5 more. Journal of Medical Genetics, 2004

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SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. (2006, background): “I848T (black circles, n = 7) half-maximal activation potential is 221.4 mV (best-fit Boltzmann curve, heavy line), shifted over 5 mV negative when compared with control curve (fine line, same as that shown in Figure 3C).”
RCSB Protein Data Bank: Enabling biomedical research and drug discovery (2019, background): “7 gain-of-function mutation causes persistent pain.(54) In 2006, a loss-of-function mutation was identified in several Pakistani street performers, who show no sensitivity to pain while walking on hot coals, and so forth.”
Cellular and Molecular Mechanisms of Pain (2009, positive): “7 leads to hyperexcitability of the channel and are associated with two distinct pain disorders in humans, erythromelalgia and paroxysmal extreme pain disorder, both of which cause intense burning sensations (Estacion et al., 2008; Fertleman et al., 2006; Yang et al., 2004).”
Principles of early drug discovery (2011, background): “7, both mutations incur a pain phenotype, insensitivity or oversensitivity respectively (Yang et al., 2004; Cox et al., 2006).”