| 1 | CIEP, SCN9A
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| Paroxysmal extreme pain disorder associated with a mutation in SCN9A gene - Case report and own experiences.
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| Szczupak M, Wierzchowska J, Cimoszko-Zauliczna M, Kobak J, Kosydar-Bochenek J, Radys W, Szlagatys-Sidorkiewicz A, Religa D, Krupa-Nurcek S.
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| Front Neurol. Dec 6;15:1477982. doi: 10.3389/fneur.2024.1477982 2024
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| 2 | CIEP, SCN9A
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| Novel SCN9A variant associated with congenital insensitivity to pain.
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| Yammine T, Aprahamian R, Souaid M, Salem N, Awwad J, Farra C.
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| Mol Biol Rep. Jul;50(7):6293-6298. doi: 10.1007/s11033-023-08507-0. Epub 2023 May 25. 2023
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| 3 | SCN9A
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| The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice.
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| Xue Y, Kremer M, Muniz Moreno MDM, Chidiac C, Lorentz R, Birling MC, Barrot M, Herault Y, Gaveriaux-Ruff C.
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| Front Mol Neurosci. Jun 13;15:913990. doi: 10.3389/fnmol.2022.913990. 2022
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| 4 | GEFSP2, SCN9A
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| SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine.
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| Zhang S, Zhang Z, Shen Y, Zhu Y, Du K, Guo J, Ji Y, Tao J.
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| Neurosci Bull. Jan;36(1):11-24. doi: 10.1007/s12264-019-00413-5. Epub 2019 Aug 1. 2020
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| 5 | ETHA, SCN9A
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| Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.
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| Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM.
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| J Pediatr. Mar;206:217-224.e9. doi: 10.1016/j.jpeds.2018.10.024. Epub 2018 Nov 9. 2019
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| 6 | SCN9A
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| The SCN9A channel and plasma membrane depolarization promote cellular senescence through Rb pathway.
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| Warnier M, Flaman JM, Chouabe C, Wiel C, Gras B, Griveau A, Blanc E, Foy JP, Mathot P, Saintigny P, Van Coppenolle F, Vindrieux D, Martin N, Bernard D.
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| Aging Cell. Jun;17(3):e12736. doi: 10.1111/acel.12736. Epub 2018 Feb 15. 2018
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| 7 | SCN9A
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| Nav1.7 inhibitors for the treatment of chronic pain.
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| McKerrall SJ, Sutherlin DP.
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| Bioorg Med Chem Lett. Oct 15;28(19):3141-3149. doi: 10.1016/j.bmcl.2018.08.007. Epub 2018 Aug 12. 2018
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| 8 | FGF13, SCN9A
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| FGF13 Selectively Regulates Heat Nociception by Interacting with Nav1.7.
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| Yang L, Dong F, Yang Q, Yang PF, Wu R, Wu QF, Wu D, Li CL, Zhong YQ, Lu YJ, Cheng X, Xu FQ, Chen L, Bao L, Zhang X.
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| Neuron 93(4):806-821.e9. doi: 10.1016/j.neuron.2017.01.009. Epub 2017 Feb 2.
2017
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| 9 | DPYSL2, SCN9A
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| Hierarchical CRMP2 posttranslational modifications control NaV1.7 function.
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| Dustrude ET, Moutal A, Yang X, Wang Y, Khanna M, Khanna R.
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| Proc Natl Acad Sci U S A 113(52):E8443-E8452. doi: 10.1073/pnas.1610531113. Epub 2016 Dec 8.
2016
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| 10 | DPYSL2, SCN9A
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| CRMP2 protein SUMOylation modulates NaV1.7 channel trafficking.
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| Dustrude ET, Wilson SM, Ju W, Xiao Y, Khanna R.
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| J Biol Chem 288(34):24316-31. doi: 10.1074/jbc.M113.474924. Epub 2013 Jul 8.
2013
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| 11 | SCN9A
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| Molecular architecture of a sodium channel S6 helix: radial tuning of the voltage-gated sodium channel 1.7 activation gate.
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| Yang Y, Estacion M, Dib-Hajj SD, Waxman SG.
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| J Biol Chem. May 10;288(19):13741-7. doi: 10.1074/jbc.M113.462366. Epub 2013 Mar 27. 2013
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| 12 | CIEP, SCN9A
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| Neuroscience: Channelopathies have many faces.
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| Waxman SG.
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| Nature 472(7342):173-4. No abstract available.
2011
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| 13 | SCN9A
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| Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.
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| Weiss J, Pyrski M, Jacobi E, Bufe B, Willnecker V, Schick B, Zizzari P, Gossage SJ, Greer CA, Leinders-Zufall T, Woods CG, Wood JN, Zufall F.
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| Nature 472(7342):186-90. Epub 2011 Mar 23.
2011
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| 14 | 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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| 15 | CIEP, SCN9A
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| Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.
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| Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R.
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| Hum Mutat 31(9):E1670-86.
2010
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| 16 | 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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| 17 | 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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| 18 | SCN9A
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| Function and role of voltage-gated sodium channel NaV1.7 expressed in aortic smooth muscle cells.
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| Meguro K, Iida H, Takano H, Morita T, Sata M, Nagai R, Nakajima T.
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| Am J Physiol Heart Circ Physiol 296(1):H211-9. Epub 2008 Oct 31.PMID: 18978189 2009
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| 19 | 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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| 20 | SCN2A, SCN3A, SCN9A, TRPM5
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| Voltage-gated sodium channels in taste bud cells.
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| Gao N, Lu M, Echeverri F, Laita B, Kalabat D, Williams ME, Hevezi P, Zlotnik A, Moyer BD.
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| BMC Neurosci 10:20.PMID: 19284629 2009
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| 21 | SCN9A
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| Biophysical properties of human Na v1.7 splice variants and their regulation by protein kinase A.
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| Chatelier A, Dahllund L, Eriksson A, Krupp J, Chahine M.
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| J Neurophysiol 99(5):2241-50. Epub 2008 Mar 12.PMID: 18337362 2008
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| 22 | 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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| 23 | SCN9A
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| Identification and characterization of the promoter region of the Nav1.7 voltage-gated sodium channel gene (SCN9A).
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| Diss JK, Calissano M, Gascoyne D, Djamgoz MB, Latchman DS.
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| Mol Cell Neurosci 37(3):537-47. Epub 2007 Dec 15.PMID: 18249135 2008
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| 24 | CIEP, SCN9A
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| Loss-of-function mutations in the Na(v)1.7 gene underlie congenital indifference to pain in multiple human populations.
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| Goldberg Y, Macfarlane J, Macdonald M, 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 H, Green R, Duff A, Boltshauser E, Grinspan G, Dimon J, Sibley B, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone S, Samuels M, Sherrington R, Hayden M.
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| Clin Genet 71(4):311-9. 2007
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| 25 | SCN9A, CIEP
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| A stop codon mutation in SCN9A causes lack of pain sensation.
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| Ahmad S, Dahllund L, Eriksson AB, Hellgren D, Karlsson U, Lund PE, Meijer IA, Meury L, Mills T, Moody A, Morinville A, Morten J, O'donnell D, Raynoschek C, Salter H, Rouleau GA, Krupp JJ.
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| Hum Mol Genet 16(17):2114-21. Epub 2007 Jun 27. 2007
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| 26 | SCN9A, CIEP
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| An SCN9A channelopathy causes congenital inability to experience pain.
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| 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.
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| Nature 444(7121):894-8. 2006
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| 27 | 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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| 28 | PEXPD, SCN9A
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| SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
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| Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M.
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| Neuron 52(5):767-74.
2006
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| 29 | 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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| 30 | 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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| 31 | 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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| 32 | SCN9A
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| Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia.
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| Raymond CK, Castle J, Garrett-Engele P, Armour CD, Kan Z, Tsinoremas N, Johnson JM.
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| J Biol Chem 279(44):46234-41. Epub 2004 Aug 9. 2004
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| 33 | SCN9A
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| Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.
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| Klugbauer N, et al.
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| EMBO J 14(6):1084-90 1995
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