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Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.
Zhang Z, Schmelz M, Segerdahl M, Quiding H, Centerholt C, Juréus A, Carr TH, Whiteley J, Salter H, Kvernebo MS, Ørstavik K, Helås T, Kleggetveit IP, Lunden LK, Jørum E. Zhang Z, et al. Among authors: lunden lk. Scand J Pain. 2014 Oct 1;5(4):217-225. doi: 10.1016/j.sjpain.2014.09.002. Scand J Pain. 2014. PMID: 29911575 Free article.
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.
Kist AM, Sagafos D, Rush AM, Neacsu C, Eberhardt E, Schmidt R, Lunden LK, Ørstavik K, Kaluza L, Meents J, Zhang Z, Carr TH, Salter H, Malinowsky D, Wollberg P, Krupp J, Kleggetveit IP, Schmelz M, Jørum E, Lampert A, Namer B. Kist AM, et al. Among authors: lunden lk. PLoS One. 2016 Sep 6;11(9):e0161789. doi: 10.1371/journal.pone.0161789. eCollection 2016. PLoS One. 2016. PMID: 27598514 Free PMC article.