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Items: 1 to 20 of 119

1.

Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia.

Cao L, McDonnell A, Nitzsche A, Alexandrou A, Saintot PP, Loucif AJ, Brown AR, Young G, Mis M, Randall A, Waxman SG, Stanley P, Kirby S, Tarabar S, Gutteridge A, Butt R, McKernan RM, Whiting P, Ali Z, Bilsland J, Stevens EB.

Sci Transl Med. 2016 Apr 20;8(335):335ra56. doi: 10.1126/scitranslmed.aad7653.

PMID:
27099175
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 24;289(4):1971-80. doi: 10.1074/jbc.M113.502211. Epub 2013 Dec 5.

3.

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

Yang Y, Huang J, Mis MA, Estacion M, Macala L, Shah P, Schulman BR, Horton DB, Dib-Hajj SD, Waxman SG.

J Neurosci. 2016 Jul 13;36(28):7511-22. doi: 10.1523/JNEUROSCI.0462-16.2016.

4.

Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.

McDonnell A, Schulman B, Ali Z, Dib-Hajj SD, Brock F, Cobain S, Mainka T, Vollert J, Tarabar S, Waxman SG.

Brain. 2016 Apr;139(Pt 4):1052-65. doi: 10.1093/brain/aww007. Epub 2016 Feb 26.

PMID:
26920677
5.

Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.

Geha P, Yang Y, Estacion M, Schulman BR, Tokuno H, Apkarian AV, Dib-Hajj SD, Waxman SG.

JAMA Neurol. 2016 Jun 1;73(6):659-67. doi: 10.1001/jamaneurol.2016.0389.

PMID:
27088781
6.

Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp.

Mis MA, Yang Y, Tanaka BS, Gomis-Perez C, Liu S, Dib-Hajj F, Adi T, Garcia-Milian R, Schulman BR, Dib-Hajj SD, Waxman SG.

J Neurosci. 2019 Jan 16;39(3):382-392. doi: 10.1523/JNEUROSCI.2433-18.2018. Epub 2018 Nov 20.

7.

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

Vasylyev DV, Han C, Zhao P, Dib-Hajj S, Waxman SG.

J Neurophysiol. 2014 Apr;111(7):1429-43. doi: 10.1152/jn.00763.2013. Epub 2014 Jan 8.

8.

Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker.

Goldberg YP, Price N, Namdari R, Cohen CJ, Lamers MH, Winters C, Price J, Young CE, Verschoof H, Sherrington R, Pimstone SN, Hayden MR.

Pain. 2012 Jan;153(1):80-5. doi: 10.1016/j.pain.2011.09.008. Epub 2011 Oct 28.

PMID:
22035805
9.

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity.

Sheets PL, Jackson JO 2nd, Waxman SG, Dib-Hajj SD, Cummins TR.

J Physiol. 2007 Jun 15;581(Pt 3):1019-31. Epub 2007 Apr 12.

10.

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

Emery EC, Habib AM, Cox JJ, Nicholas AK, Gribble FM, Woods CG, Reimann F.

J Neurosci. 2015 May 20;35(20):7674-81. doi: 10.1523/JNEUROSCI.3935-14.2015.

11.

Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations.

Dabby R.

Curr Neurol Neurosci Rep. 2012 Feb;12(1):76-83. doi: 10.1007/s11910-011-0233-8. Review.

PMID:
21984269
12.

Characterisation of Nav1.7 functional expression in rat dorsal root ganglia neurons by using an electrical field stimulation assay.

Fouillet A, Watson JF, Piekarz AD, Huang X, Li B, Priest B, Nisenbaum E, Sher E, Ursu D.

Mol Pain. 2017 Jan-Dec;13:1744806917745179. doi: 10.1177/1744806917745179. Epub 2017 Nov 22.

13.

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

Fischer TZ, Gilmore ES, Estacion M, Eastman E, Taylor S, Melanson M, Dib-Hajj SD, Waxman SG.

Ann Neurol. 2009 Jun;65(6):733-41. doi: 10.1002/ana.21678.

14.

Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development.

Tanaka BS, Nguyen PT, Zhou EY, Yang Y, Yarov-Yarovoy V, Dib-Hajj SD, Waxman SG.

J Biol Chem. 2017 Jun 2;292(22):9262-9272. doi: 10.1074/jbc.M117.778779. Epub 2017 Apr 5.

15.

Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.

Stadler T, O'Reilly AO, Lampert A.

J Biol Chem. 2015 Mar 6;290(10):6316-25. doi: 10.1074/jbc.M114.605899. Epub 2015 Jan 9.

16.

Inhibition of Navβ4 peptide-mediated resurgent sodium currents in Nav1.7 channels by carbamazepine, riluzole, and anandamide.

Theile JW, Cummins TR.

Mol Pharmacol. 2011 Oct;80(4):724-34. doi: 10.1124/mol.111.072751. Epub 2011 Jul 25.

17.

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. doi: 10.1371/journal.pone.0055212. Epub 2013 Jan 31.

18.

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.

PLoS One. 2016 Sep 6;11(9):e0161789. doi: 10.1371/journal.pone.0161789. eCollection 2016.

19.

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. doi: 10.1111/j.1399-0004.2012.01942.x. Epub 2012 Aug 13. Review.

PMID:
22845492
20.

Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.

Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM.

J Pediatr. 2019 Mar;206:217-224.e9. doi: 10.1016/j.jpeds.2018.10.024. Epub 2018 Nov 9.

PMID:
30416015

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