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2. Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. Eberhardt M; Nakajima J; Klinger AB; Neacsu C; Hühne K; O'Reilly AO; Kist AM; Lampe AK; Fischer K; Gibson J; Nau C; Winterpacht A; Lampert A J Biol Chem; 2014 Jan; 289(4):1971-80. PubMed ID: 24311784 [TBL] [Abstract][Full Text] [Related]
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4. A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7. Wu B; Zhang Y; Tang H; Yang M; Long H; Shi G; Tang J; Shi X Curr Mol Med; 2017; 17(6):450-457. PubMed ID: 28990532 [TBL] [Abstract][Full Text] [Related]
5. Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. Cregg R; Laguda B; Werdehausen R; Cox JJ; Linley JE; Ramirez JD; Bodi I; Markiewicz M; Howell KJ; Chen YC; Agnew K; Houlden H; Lunn MP; Bennett DL; Wood JN; Kinali M Neuromolecular Med; 2013 Jun; 15(2):265-78. PubMed ID: 23292638 [TBL] [Abstract][Full Text] [Related]
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7. Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia. Klein CJ; Wu Y; Kilfoyle DH; Sandroni P; Davis MD; Gavrilova RH; Low PA; Dyck PJ J Neurol Neurosurg Psychiatry; 2013 Apr; 84(4):386-91. PubMed ID: 23129781 [TBL] [Abstract][Full Text] [Related]
8. Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. Kim DT; Rossignol E; Najem K; Ospina LH J AAPOS; 2015 Oct; 19(5):478-9. PubMed ID: 26486037 [TBL] [Abstract][Full Text] [Related]
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11. Human Mendelian pain disorders: a key to discovery and validation of novel analgesics. Goldberg YP; Pimstone SN; Namdari R; Price N; Cohen C; Sherrington RP; Hayden MR Clin Genet; 2012 Oct; 82(4):367-73. PubMed ID: 22845492 [TBL] [Abstract][Full Text] [Related]
12. NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. Estacion M; Dib-Hajj SD; Benke PJ; Te Morsche RH; Eastman EM; Macala LJ; Drenth JP; Waxman SG J Neurosci; 2008 Oct; 28(43):11079-88. PubMed ID: 18945915 [TBL] [Abstract][Full Text] [Related]
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15. Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7). Deuis JR; Kumble S; Keramidas A; Ragnarsson L; Simons C; Pais L; White SM; Vetter I Hum Mol Genet; 2024 Jan; 33(2):103-109. PubMed ID: 37721535 [TBL] [Abstract][Full Text] [Related]
16. A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers. Wu MT; Huang PY; Yen CT; Chen CC; Lee MJ PLoS One; 2013; 8(1):e55212. PubMed ID: 23383113 [TBL] [Abstract][Full Text] [Related]
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20. [Neuropathic pain associated with Nav1.7 mutations: clinical picture and treatment]. Doppler K; Sommer C Nervenarzt; 2013 Dec; 84(12):1428-35. PubMed ID: 24202110 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]