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Joost P.H. Drenth, Stephen G. Waxman
Published December 3, 2007
Citation Information: J Clin Invest. 2007;117(12):3603-3609. https://doi.org/10.1172/JCI33297.
Citation Information: J Clin Invest. 2007;117(12):3603-3609. https://doi.org/10.1172/JCI33297.
Abstract
The voltage-gated sodium-channel type IX α subunit, known as Nav1.7 and encoded by the gene SCN9A, is located in peripheral neurons and plays an important role in action potential production in these cells. Recent genetic studies have identified Nav1.7 dysfunction in three different human pain disorders. Gain-of-function missense mutations in Nav1.7 have been shown to cause primary erythermalgia and paroxysmal extreme pain disorder, while nonsense mutations in Nav1.7 result in loss of Nav1.7 function and a condition known as channelopathy-associated insensitivity to pain, a rare disorder in which affected individuals are unable to feel physical pain. This review highlights these recent developments and discusses the critical role of Nav1.7 in pain sensation in humans.
Authors
Joost P.H. Drenth , Stephen G. Waxman
Total citations by year
Citation information
Citations to this article (143)
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Epigenetic regulation of persistent pain
G Bai, K Ren, R Dubner |
Translational Research | 2014 |
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An Egyptian child with erythromelalgia responding to a new line of treatment: a case report and review of the literature
SM Al-Minshawy, AA El-Mazary |
Journal of medical case reports | 2014 |
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The Role of Sodium Channels in Painful Diabetic and Idiopathic Neuropathy
G Lauria, D Ziegler, R Malik, IS Merkies, SG Waxman, CG Faber |
Current Diabetes Reports | 2014 |
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Synthesis and Analgesic Effects of μ-TRTX-Hhn1b on Models of Inflammatory and Neuropathic Pain
Y Liu, J Tang, Y Zhang, X Xun, D Tang, D Peng, J Yi, Z Liu, X Shi |
Toxins | 2014 |
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Depolarized Inactivation Overcomes Impaired Activation to Produce DRG Neuron Hyperexcitability in a Nav1.7 Mutation in a Patient with Distal Limb Pain
J Huang, Y Yang, SD Dib-Hajj, M van Es, P Zhao, J Salomon, JP Drenth, SG Waxman |
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2014 |
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Validating therapeutic targets through human genetics
RM Plenge, EM Scolnick, D Altshuler |
Nature Reviews Drug Discovery | 2013 |
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Voltage sensor interaction site for selective small molecule inhibitors of voltage-gated sodium channels
K McCormack, S Santos, ML Chapman, DS Krafte, BE Marron, CW West, MJ Krambis, BM Antonio, SG Zellmer, D Printzenhoff, KM Padilla, Z Lin, PK Wagoner, NA Swain, PA Stupple, M Groot, RP Butt, NA Castle |
Proceedings of the National Academy of Sciences | 2013 |
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Nature and nurture of human pain
I Belfer |
Scientifica | 2013 |
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Pain Prevalence and Trajectories Following Pediatric Spinal Fusion Surgery
CB Sieberg, LE Simons, MR Edelstein, MR DeAngelis, M Pielech, N Sethna, MT Hresko |
The Journal of Pain | 2013 |
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Linkage between increased nociception and olfaction via a SCN9A haplotype
D Heimann, J Lötsch, T Hummel, A Doehring, BG Oertel |
PloS one | 2013 |
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A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers
MT Wu, PY Huang, CT Yen, CC Chen, MJ Lee |
PloS one | 2013 |
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Evaluation of behavior and expression of NaV1.7 in dorsal root ganglia after sciatic nerve compression and application of nucleus pulposus in rats
M Mukai, Y Sakuma, M Suzuki, S Orita, K Yamauchi, G Inoue, Y Aoki, T Ishikawa, M Miyagi, H Kamoda, G Kubota, Y Oikawa, K Inage, T Sainoh, J Sato, J Nakamura, M Takaso, T Toyone, K Takahashi, S Ohtori |
European Spine Journal | 2013 |
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Human pain and genetics: some basics
S James |
British Journal of Pain | 2013 |
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Extending the clinical spectrum of pain channelopathies
H Houlden |
Brain | 2012 |
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Reduction of voltage gated sodium channel protein in DRG by vector mediated miRNA reduces pain in rats with painful diabetic neuropathy
M Chattopadhyay, Z Zhou, S Hao, M Mata, DJ Fink |
Molecular Pain | 2012 |
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Small-fibre neuropathies—advances in diagnosis, pathophysiology and management
JG Hoeijmakers, CG Faber, G Lauria, IS Merkies, SG Waxman |
Nature Reviews Neurology | 2012 |
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The NaV1.7 sodium channel: from molecule to man
SD Dib-Hajj, Y Yang, JA Black, SG Waxman |
Nature Reviews Neuroscience | 2012 |
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The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility
KL Holliday, W Thomson, T Neogi, DT Felson, K Wang, FC Wu, IT Huhtaniemi, G Bartfai, F Casanueva, G Forti, K Kula, M Punab, D Vanderschueren, GJ Macfarlane, MA Horan, W Ollier, A Payton, N Pendleton, J McBeth |
Molecular Pain | 2012 |
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Structural homology modeling and mutant cycle analysis predict pharmacoresponsiveness of a NaV1.7 mutant channel
Y Yang, SD Dib-Hajj, J Zhang, Y Zhang, L Tyrrell, M Estacion, SG Waxman |
Nature Communications | 2012 |
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Sodium Channel Nav1.7 Is Essential for Lowering Heat Pain Threshold after Burn Injury
SD Shields, X Cheng, N Uceyler, C Sommer, SD Dib-Hajj, SG Waxman |
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2012 |
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Blockade of persistent sodium currents contributes to the riluzole-induced inhibition of spontaneous activity and oscillations in injured DRG neurons
RG Xie, DW Zheng, JL Xing, XJ Zhang, Y Song, YB Xie, F Kuang, H Dong, SW You, H Xu, SJ Hu |
PloS one | 2011 |
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Recent Advances in the Understanding of Genetic Susceptibility to Chronic Pain and Somatic Symptoms
KL Holliday, J McBeth |
Current Rheumatology Reports | 2011 |
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Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7
M Estacion, C Han, JS Choi, JG Hoeijmakers, G Lauria, JP Drenth, MM Gerrits, SD Dib-Hajj, CG Faber, IS Merkies, SG Waxman |
Molecular Pain | 2011 |
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Vector-mediated release of GABA attenuates pain-related behaviors and reduces NaV1.7 in DRG neurons
M Chattopadhyay, M Mata, DJ Fink |
European journal of pain (London, England) | 2011 |
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Common Molecular Determinants of Tarantula Huwentoxin-IV Inhibition of Na+ Channel Voltage Sensors in Domains II and IV*
Y Xiao, JO 2nd, S Liang, TR Cummins |
The Journal of biological chemistry | 2011 |
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Genetic basis of pain variability: recent advances
EE Young, WR Lariviere, I Belfer |
Journal of medical genetics | 2011 |
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Heat Avoidance Is Regulated by Transient Receptor Potential (TRP) Channels and a Neuropeptide Signaling Pathway in Caenorhabditis elegans
DA Glauser, WC Chen, R Agin, BL MacInnis, AB Hellman, PA Garrity, MW Tan, MB Goodman |
Genetics | 2011 |
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Getting pharmaceutical R&D back on target
ME Bunnage |
Nature Chemical Biology | 2011 |
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Pain as a channelopathy
Ramin Raouf, Kathryn Quick, John N. Wood |
Journal of Clinical Investigation | 2010 |
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The discovery and development of analgesics: new mechanisms new modalities
Gillian Burgess, Dic Williams |
Journal of Clinical Investigation | 2010 |
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Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders
X Cheng, SD Dib-Hajj, L Tyrrell, DA Wright, TZ Fischer, SG Waxman |
Molecular Pain | 2010 |
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How to improve R&D productivity: the pharmaceutical industry's grand challenge
SM Paul, DS Mytelka, CT Dunwiddie, CC Persinger, BH Munos, SR Lindborg, AL Schacht |
Nature Reviews Drug Discovery | 2010 |
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Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons
JS Choi, F Boralevi, O Brissaud, J Sánchez-Martín, RH Morsche, SD Dib-Hajj, JP Drenth, SG Waxman |
Nature Reviews Neurology | 2010 |
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Pain perception is altered by a nucleotide polymorphism in SCN9A
F Reimann, JJ Cox, I Belfer, L Diatchenko, DV Zaykin, DP McHale, JP Drenth, F Dai, J Wheeler, F Sanders, L Wood, TX Wu, J Karppinen, L Nikolajsen, M Männikkö, MB Max, C Kiselycznyk, M Poddar, RH Morsche, S Smith, D Gibson, A Kelempisioti, W Maixner, FM Gribble, CG Woods |
Proceedings of the National Academy of Sciences | 2010 |
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Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations
JJ Cox, J Sheynin, Z Shorer, F Reimann, AK Nicholas, L Zubovic, M Baralle, E Wraige, E Manor, J Levy, CG Woods, R Parvari |
Human Mutation | 2010 |
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A nonsense mutation in the SCN9A gene in congenital insensitivity to pain
M Kurban, M Wajid, Y Shimomura, AM Christiano |
Dermatology (Basel, Switzerland) | 2010 |
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Sodium channel Na v 1.7 immunoreactivity in painful human dental pulp and burning mouth syndrome
K Beneng, T Renton, Z Yilmaz, Y Yiangou, P Anand |
BMC neuroscience | 2010 |
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Expression genetics identifies spinal mechanisms supporting formalin late phase behaviors
X Li, P Sahbaie, M Zheng, J Ritchie, G Peltz, JS Mogil, JD Clark |
Molecular Pain | 2010 |
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Two Novel Mutations of SCN9A (Nav1.7) are Associated with Partial Congenital Insensitivity to Pain
R Staud, DD Price, D Janicke, E Andrade, AG Hadjipanayis, WT Eaton, L Kaplan, MR Wallace |
European journal of pain (London, England) | 2010 |
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A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome
B Kremeyer, F Lopera, JJ Cox, A Momin, F Rugiero, S Marsh, CG Woods, NG Jones, KJ Paterson, FR Fricker, A Villegas, N Acosta, NG Pineda-Trujillo, JD Ramírez, J Zea, MW Burley, G Bedoya, DL Bennett, JN Wood, A Ruiz-Linares |
Neuron | 2010 |
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Sodium channelopathies and pain
A Lampert, AO OReilly, P Reeh, A Leffler |
Pflügers Archiv - European Journal of Physiology | 2010 |
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Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
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Visualizing sodium dynamics in isolated cardiomyocytes using fluorescent nanosensors
JM Dubach, S Das, A Rosenzweig, HA Clark |
Proceedings of the National Academy of Sciences | 2009 |
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Developments in autonomic research: a review of the latest literature
VG Macefield |
Clinical Autonomic Research | 2009 |
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Neuropathic Pain: A Maladaptive Response of the Nervous System to Damage
M Costigan, J Scholz, CJ Woolf |
Annual Review of Neuroscience | 2009 |
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Sodium channel blockers for the treatment of neuropathic pain
A Bhattacharya, AD Wickenden, SR Chaplan |
Neurotherapeutics | 2009 |
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Ranolazine attenuates behavioral signs of neuropathic pain
HJ 3rd, C Garrett, RR Donahue, D Paul, I Diamond, BK Taylor |
Behavioural Pharmacology | 2009 |
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A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia
TZ Fischer, ES Gilmore, M Estacion, E Eastman, S Taylor, M Melanson, SD Dib-Hajj, SG Waxman |
Annals of Neurology | 2009 |
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A case of primary erythermalgia with encephalopathy
J Seneschal, G Solé, A Taieb, X Ferrer |
Journal of Neurology | 2009 |
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Late-onset erythromelalgia in a previously healthy young woman: a case report and review of the literature
S Gaur, T Koroscil |
Journal of medical case reports | 2009 |
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Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia
ME Samuels, RH Morsche, ME Lynch, JP Drenth |
Molecular Pain | 2008 |
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Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases
WA Catterall, S Dib-Hajj, MH Meisler, D Pietrobon |
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2008 |
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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
M Estacion, SD Dib-Hajj, PJ Benke, RH Morsche, EM Eastman, LJ Macala, JP Drenth, SG Waxman |
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2008 |
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Sodium Channel β1 Regulatory Subunit Deficiency Reduces Pancreatic Islet Glucose-Stimulated Insulin and Glucagon Secretion
SJ Ernst, L Aguilar-Bryan, JL Noebels |
Endocrinology | 2008 |
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