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Items: 1 to 20 of 114

1.

No mutations in the voltage-gated NaV1.7 sodium channel alpha1 subunit gene SCN9A in familial complex regional pain syndrome.

de Rooij AM, Gosso MF, Alsina-Sanchis E, Marinus J, van Hilten JJ, van den Maagdenberg AM.

Eur J Neurol. 2010 Jun 1;17(6):808-14. doi: 10.1111/j.1468-1331.2009.02931.x. Epub 2010 Jan 12.

PMID:
20074229
2.

Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.

Drenth JP, Te Morsche RH, Mansour S, Mortimer PS.

Arch Dermatol. 2008 Mar;144(3):320-4. doi: 10.1001/archderm.144.3.320.

PMID:
18347287
3.

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. doi: 10.1136/jnnp-2012-303719. Epub 2012 Nov 5.

4.

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.

5.

Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel.

Natkunarajah J, Atherton D, Elmslie F, Mansour S, Mortimer P.

Clin Exp Dermatol. 2009 Dec;34(8):e640-2. doi: 10.1111/j.1365-2230.2009.03355.x. Epub 2009 Jun 22.

PMID:
19549232
6.

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M.

Neuron. 2006 Dec 7;52(5):767-74.

7.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

8.

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R.

Hum Mutat. 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325.

9.

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL, Jansen JB.

J Invest Dermatol. 2005 Jun;124(6):1333-8.

10.

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF.

PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18.

11.

A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia.

Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M.

BMC Musculoskelet Disord. 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23.

12.

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.

Dabby R, Sadeh M, Gilad R, Lampl Y, Cohen S, Inbar S, Leshinsky-Silver E.

J Neurol Sci. 2011 Feb 15;301(1-2):90-2. doi: 10.1016/j.jns.2010.10.006. Epub 2010 Nov 20.

PMID:
21094958
13.

Role of the Nav1.7 R1150W amino acid change in susceptibility to symptomatic knee osteoarthritis and multiple regional pain.

Valdes AM, Arden NK, Vaughn FL, Doherty SA, Leaverton PE, Zhang W, Muir KR, Rampersaud E, Dennison EM, Edwards MH, Jameson KA, Javaid MK, Spector TD, Cooper C, Maciewicz RA, Doherty M.

Arthritis Care Res (Hoboken). 2011 Mar;63(3):440-4. doi: 10.1002/acr.20375. Epub 2010 Oct 28.

14.

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

Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L, Fan J, Bu D, Liu B, Fan Z, Wu G, Jin J, Ding B, Zhu X, Shen Y.

J Med Genet. 2004 Mar;41(3):171-4.

15.

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.

16.

p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.

Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C.

Anesthesiology. 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476.

PMID:
25285947
17.

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR.

Clin Genet. 2007 Apr;71(4):311-9.

PMID:
17470132
18.

[Neuropathic pain associated with Nav1.7 mutations: clinical picture and treatment].

Doppler K, Sommer C.

Nervenarzt. 2013 Dec;84(12):1428-35. doi: 10.1007/s00115-012-3621-7. Review. German.

PMID:
24202110
19.

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.

20.

An SCN9A channelopathy causes congenital inability to experience pain.

Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG.

Nature. 2006 Dec 14;444(7121):894-8.

PMID:
17167479
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