| 1 | CIEP, ETHA, PEXPD, SCN9A
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| Pain perception is altered by a nucleotide polymorphism in SCN9A.
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| Reimann F, Cox JJ, Belfer I, Diatchenko L, Zaykin DV, McHale DP, Drenth JP, Dai F, Wheeler J, Sanders F, Wood L, Wu TX, Karppinen J, Nikolajsen L, Männikkö M, Max MB, Kiselycznyk C, Poddar M, Te Morsche RH, Smith S, Gibson D, Kelempisioti A, Maixner W, Gribble FM, Woods CG.
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| Proc Natl Acad Sci U S A 107(11):5148-53. Epub 2010 Mar 8. 2010
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| 2 | ETHA, SCN9A
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| Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.
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| Lampert A, Dib-Hajj SD, Eastman EM, Tyrrell L, Lin Z, Yang Y, Waxman SG.
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| Biochem Biophys Res Commun 390(2):319-24. Epub 2009 Oct 1.PMID: 19800314 2009
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| 3 | ETHA, SCN9A
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| A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
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| Fischer TZ, Gilmore ES, Estacion M, Eastman E, Taylor S, Melanson M, Dib-Hajj SD, Waxman SG.
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| Ann Neurol 65(6):733-41.PMID: 1955786 2009
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| 4 | ETHA, GEFSP2, SCN9A
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| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
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| 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.
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| PLoS Genet 5(9):e1000649. Epub 2009 Sep 18.PMID: 19763161 2009
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| 5 | ETHA, SCN10A, SCN11A, SCN9A
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| Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.
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| Drenth JP, Te Morsche RH, Mansour S, Mortimer PS.
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| Arch Dermatol 144(3):320-4.PMID: 18347287 2008
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| 6 | ETHA, SCN9A
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| Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
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| Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG.
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| J Neurosci 26(48):12566-75.
2006
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| 7 | CIEP, ETHA, SCN9A
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| Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
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| Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG.
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| Brain 128(Pt 8):1847-54. Epub 2005 Jun 15. 2005
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| 8 | ETHA,SCN9A
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| Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
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| Michiels JJ, te Morsche RH, Jansen JB, Drenth JP.
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| Arch Neurol 62(10):1587-90. 2005
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| 9 | SCN9A, ETHA
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| Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
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| 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.
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| J Med Genet 41(3):171-4. 2004
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| 10 | ETHA
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| The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.
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| Drenth JP, Finley WH, Breedveld GJ, Testers L, Michiels JJ, Guillet G, Taieb A, Kirby RL, Heutink P.
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| Am J Hum Genet 68(5):1277-82. 2001
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