Selected Publications

  • 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. Resilience to Pain: A Peripheral Component Identified using induced Pluripotent Stem Cells and Dynamic Clamp. J Neurosci. 2018 Nov 20. pii: 2433-18. doi:10.1523/JNeurosci.2433-18.2018. 
  • Han C, Themistocleous AC, Estacion M, Dib-Hajj FB, Blesneac I, Macala L Fratter C, Bennett DL, Waxman SG, Dib-Hajj SD. The Novel Activity of Carbamazepine as an Activation Modulator Extends from Na(V)1.7 Mutations to the Na(V)1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.Mol Pharmacol. 2018 Nov;94(5):1256.
  • Yang Y, Mis MA, Estacion M, Dib-Hajj SD, Waxman SG. Na(V)1.7 as a Pharmacogenomic Target for Pain: Moving Toward Precision Medicine. Trends Pharmacol Sci. 2018 Mar;39(3):258.
  • Yang Y, Adi T, Effraim PR, Chen L, Dib-Hajj SD, Waxman SG. Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Na(v) 1.7 mutation I234T. Br J Pharmacol. 2018 Jun;175(12):2261-2271.
  • Lankford KL, Arroyo EJ, Nazimek K, Bryniarski K, Askenase PW, Kocsis JD. Intravenously delivered mesenchymal stem cell-derived exosomes target M2-type macrophages in the injured spinal cord. PLoS One. 2018 Jan 2;13(1):e0190358.
  • Zakrzewska JM et al., Safety and efficacy of a Nav1.7 selective sodium channel blocker in patients with trigeminal neuralgia: a double-blind, placebo-controlled, randomised withdrawal phase 2a trial. Lancet Neurol. 2017 Feb 16. pii: S1474-4422(17)30005-4. 
  • Geha P, Yang Y, Estacion M, Schulman BR, Tokuno H, Apkarian AV, Dib-Hajj SD, Waxman SG. Pharmacotherapy for pain in a family with inherited erythromelalgia guided by genomic analysis and functional profiling. JAMA Neurol. 2016 Jun 1:73(6):659-67. 
  • 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, Bisland J, Stevens EB.  Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia. Sci. Transl Med. 2016 Apr 20:8(335).
  • Tanaka BS, Zhao P, Dib-Hajj FB, Morisset V, Tate S, Waxman SG, Dib-Hajj SD. A gain-of-function mutation in Nav1.6 in a case of trigeminal neuralgia. Mol. Med. 2016 Aug 3;22 EPub. 
  • Han C, Huang J, Waxman SG. Sodium channel Nav1.8: Emerging links to human disease. Neurology. 2016 Feb 2; 86(5): 473-83.
  • Dib-Hajj SD, Black JA, Waxman SG. NaV1.9: a sodium channel linked to human pain. Nat Rev Neurosci. 2015 Sep; 16(9): 511-9.
  • Estacion M, Vohra BP, Liu S, Hoeijmakers J, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG. Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation. J Neurophysiol. 2015 Sep; 114(3):1554-64.
  • Tan AM, Samad OA, Dib-Hajj SD, Waxman SG. Virus-Mediated Knockdown of Nav1.3 in Dorsal Root Ganglia of STZ-Induced Diabetic Rats Alleviates Tactile Allodynia. Mol Med. 2015 Jun 18; 21:544-52.
  • Han C, Yang Y, de Greef BT, Hoeijmakers JG, Gerrits MM, Verhamme C, Qu J, Lauria G, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG. The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy. Neuromolecular Med. 2015 Jun; 17(2):158-69.
  • Han C, Estacion M, Huang J, Vasylyev D, Zhao P, Dib-Hajj SD, Waxman SG. Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons. J Neurophysiol. 2015 May 1; 113(9): 3172-85.
  • Shields SD, Butt RP, Dib-Hajj SD, Waxman SG. Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis. PLoS One. 2015 Mar 6; 10(3): e0119067.
  • Hoeijmakers JG, Faber CG, Merkies IS, Waxman SG. Painful peripheral neuropathy and sodium channel mutations. Neurosci Lett. 2015 Jun 2; 596:51-9.
  • Tan AM, Waxman SG. Dendritic spine dysgenesis in neuropathic pain. Neurosci Lett. 2015 Aug 5; 601:54-60.
  • Waxman SG, Merkies IS, Gerrits MM, Dib-Hajj SD, Lauria G, Cox JJ, Wood JN, Woods CG, Drenth JP, Faber CG. Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use. Lancet Neurol. 2014 Nov; 13(11): 1152.
  • Pappalardo LW, Liu S, Black JA, Waxman SG. Dynamics of sodium channel Nav1.5 expression in astrocytes in mouse models of multiple sclerosis. Neuroreport. 2014 Oct 22; 25(15):1208-15.
  • Dib-Hajj SD, Waxman SG. Translational pain research: Lessons from genetics and genomics. Sci Transl Med. 2014 Aug 13;6(249):249sr4.
  • Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis. 2014 Sep;69:117-23.
  • Devigili G, Eleopra R, Pierro T, Lombardi R, Rinaldo S, Lettieri C, Faber CG, Merkies IS, Waxman SG, Lauria G. Paroxysmal itch caused by gain-of-function Nav1.7 mutation. Pain. 2014 Sep;155(9):1702-7.
  • Huang J, Han C, Estacion M, Vasylyev D, Hoeijmakers JG, Gerrits MM, Tyrrell L, Lauria G, Faber CG, Dib-Hajj SD, Merkies IS, Waxman SG; PROPANE Study Group. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain. 2014 Jun;137(Pt 6):1627.
  • Pappalardo LW, Samad OA, Black JA, Waxman SG. Voltage-gated sodium channel Nav 1.5 contributes to astrogliosis in an in vitro model of glial injury via reverse Na+ /Ca2+ exchange. Glia. 2014 Jul;62(7):1162-75.
  • Liu S, Zwinger P, Black JA, Waxman SG. Tapered withdrawal of phenytoin removes protective effect in EAE without inflammatory rebound and mortality. J Neurol Sci. 2014 Jun 15;341(1-2):8-12.
  • Black JA, Vasylyev D, Dib-Hajj SD, Waxman SG. Nav1.9 expression in magnocellular neurosecretory cells of supraoptic nucleus. Exp Neurol. 2014 Mar;253:174-9.
  • Vasylyev DV, Han C, Zhao P, Dib-Hajj S, Waxman SG. Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H. J Neurophysiol. 2014 Apr;111(7):1429-43.
  • Han C, Vasylyev D, Macala LJ, Gerrits MM, Hoeijmakers JG, Bekelaar KJ, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG. The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability. J Neurol Neurosurg Psychiatry. 2014 May;85(5):499-505.
  • Huang J, Yang Y, Zhao P, Gerrits MM, Hoeijmakers JG, Bekelaar K, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG. Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons. J Neurosci. 2013 Aug 28; 33(35):14087-14097. .
  • Tan AM, Samad OA, Liu S, Bandaru S, Zhao P, Waxman SG. Burn injury-induced mechanical allodynia is maintained by Rac1-regulated dendritic spine dysgenesis.  Exp Neurol. 2013 Oct; 248:509-19
  • Waxman SG. Painful Na-channelopathies: an expanding universe. Trends Mol Med. 2013 Jul; 19(7):406-9. doi: 10.1016/j.molmed.2013.04.003 .
  • Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS, Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol. 2012; 71 :26-39.
  • Yang Y, Dib-Hajj SD, Zhang J, Zhang Y, Tyrrell L, Estacion M, Waxman SG. Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel. Nat Commun. 2012; 3:1186.
  • Shields SD, Cheng X, Gasser A, Saab CY, Tyrrell L, Eastman EM, Iwata M, Zwinger PJ, Black JA, Dib-Hajj SD, Waxman SG. A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis. Ann Neurol. 2012 Feb;71(2):186-94.
  • Hoeijmakers JG, Han C, Merkies IS, Macala LJ, Lauria G, Gerrits MM, Dib-Hajj SD, Faber CG, Waxman SG. Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation. Brain. 2012 Feb;135(Pt 2):345-58. Epub 2012 Jan 26.
  • Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG. Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. Mol Pain. 2011 Dec 2;7:92.
  • Waxman SG. Neuroscience: Channelopathies have many faces. Nature. 2011 Apr 14; 472(7342):173-4.
  • Choi JS, Boralevi F, Brissaud O, Sánchez-Martín J, Te Morsche RH, Dib-Hajj SD, Drenth JP, Waxman SG. Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons. Nat Rev Neurol. 2011 Jan;7(1):51-5.
  • Persson AK, Black JA, Gasser A, Cheng X, Fischer TZ, Waxman SG. Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals. Mol Pain. 2010 Nov 30; 6:84.
  • Waxman SG. Polymorphisms in ion channel genes: emerging roles in pain. Brain. 2010 Sep; 133(9):2515-8.
  • Osaka M, Honmou O, Murakami T, Nonaka T, Houkin K, Hamada H, Kocsis JD. Intravenous administration of mesenchymal stem cells derived from bone marrow after contusive spinal cord injury improves functional outcome. Brain Res. 2010 Jul 9; 1343:226-35.
  • Chang YW, Waxman SG. Minocycline Attenuates Mechanical Allodynia and Central Sensitization Following Peripheral Second-Degree Burn Injury. J Pain. 2010 Apr 23.
  • Choi JS, Cheng X, Foster E, Leffler A, Tyrrell L, Te Morsche RH, Eastman EM, Jansen HJ, Huehne K, Nau C, Dib-Hajj SD, Drenth JP, Waxman SG. Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia. Brain. 2010 Jun; 133(Pt 6):1823-35.
  • Waxman SG. Channelopathic pain: a growing but still small list of model disorders. Neuron. 2010 Jun 10; 66(5):622-4.