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A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy.

Adi T, Estacion M, Schulman BR, Vernino S, Dib-Hajj SD, Waxman SG.

Mol Pain. 2018 Jan-Dec;14:1744806918815007. doi: 10.1177/1744806918815007. Epub 2018 Nov 5.


The Novel Activity of Carbamazepine as an Activation Modulator Extends from NaV1.7 Mutations to the NaV1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.

Han C, Themistocleous AC, Estacion M, Dib-Hajj FB, Blesneac I, Macala L, Fratter C, Bennett DL, Waxman SG, Dib-Hajj SD.

Mol Pharmacol. 2018 Nov;94(5):1256-1269. doi: 10.1124/mol.118.113076. Epub 2018 Aug 22.


Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.

Huang J, Mis MA, Tanaka B, Adi T, Estacion M, Liu S, Walker S, Dib-Hajj SD, Waxman SG.

Sci Rep. 2018 Jan 29;8(1):1811. doi: 10.1038/s41598-018-20221-7.


NaV1.7 as a Pharmacogenomic Target for Pain: Moving Toward Precision Medicine.

Yang Y, Mis MA, Estacion M, Dib-Hajj SD, Waxman SG.

Trends Pharmacol Sci. 2018 Mar;39(3):258-275. doi: 10.1016/ Epub 2018 Jan 20. Review.


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.

Zakrzewska JM, Palmer J, Morisset V, Giblin GM, Obermann M, Ettlin DA, Cruccu G, Bendtsen L, Estacion M, Derjean D, Waxman SG, Layton G, Gunn K, Tate S; study investigators.

Lancet Neurol. 2017 Apr;16(4):291-300. doi: 10.1016/S1474-4422(17)30005-4. Epub 2017 Feb 17.


Nonlinear effects of hyperpolarizing shifts in activation of mutant Nav1.7 channels on resting membrane potential.

Estacion M, Waxman SG.

J Neurophysiol. 2017 Apr 1;117(4):1702-1712. doi: 10.1152/jn.00898.2016. Epub 2017 Feb 1.


Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

Yang Y, Huang J, Mis MA, Estacion M, Macala L, Shah P, Schulman BR, Horton DB, Dib-Hajj SD, Waxman SG.

J Neurosci. 2016 Jul 13;36(28):7511-22. doi: 10.1523/JNEUROSCI.0462-16.2016.


Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.

Geha P, Yang Y, Estacion M, Schulman BR, Tokuno H, Apkarian AV, Dib-Hajj SD, Waxman SG.

JAMA Neurol. 2016 Jun 1;73(6):659-67. doi: 10.1001/jamaneurol.2016.0389.


Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy.

Persson AK, Hoeijmakers JGJ, Estacion M, Black JA, Waxman SG.

Trends Mol Med. 2016 May;22(5):377-390. doi: 10.1016/j.molmed.2016.03.008. Epub 2016 Apr 13. Review.


Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release.

Alexandrou AJ, Brown AR, Chapman ML, Estacion M, Turner J, Mis MA, Wilbrey A, Payne EC, Gutteridge A, Cox PJ, Doyle R, Printzenhoff D, Lin Z, Marron BE, West C, Swain NA, Storer RI, Stupple PA, Castle NA, Hounshell JA, Rivara M, Randall A, Dib-Hajj SD, Krafte D, Waxman SG, Patel MK, Butt RP, Stevens EB.

PLoS One. 2016 Apr 6;11(4):e0152405. doi: 10.1371/journal.pone.0152405. eCollection 2016.


Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation.

Estacion M, Vohra BP, Liu S, Hoeijmakers J, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG.

J Neurophysiol. 2015 Sep;114(3):1554-64. doi: 10.1152/jn.00195.2015. Epub 2015 Jul 8.


Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons.

Han C, Estacion M, Huang J, Vasylyev D, Zhao P, Dib-Hajj SD, Waxman SG.

J Neurophysiol. 2015 May 1;113(9):3172-85. doi: 10.1152/jn.00113.2015. Epub 2015 Mar 18.


Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP.

Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4.


Contribution of sodium channels to lamellipodial protrusion and Rac1 and ERK1/2 activation in ATP-stimulated microglia.

Persson AK, Estacion M, Ahn H, Liu S, Stamboulian-Platel S, Waxman SG, Black JA.

Glia. 2014 Dec;62(12):2080-95. doi: 10.1002/glia.22728. Epub 2014 Jul 18.


A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH.

Neurobiol Dis. 2014 Sep;69:117-23. doi: 10.1016/j.nbd.2014.05.017. Epub 2014 May 27.


Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

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.

Brain. 2014 Jun;137(Pt 6):1627-42. doi: 10.1093/brain/awu079. Epub 2014 Apr 27.


Sodium channels contribute to degeneration of dorsal root ganglion neurites induced by mitochondrial dysfunction in an in vitro model of axonal injury.

Persson AK, Kim I, Zhao P, Estacion M, Black JA, Waxman SG.

J Neurosci. 2013 Dec 4;33(49):19250-61. doi: 10.1523/JNEUROSCI.2148-13.2013.


Differential effect of D623N variant and wild-type Na(v)1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons.

Ahn HS, Vasylyev DV, Estacion M, Macala LJ, Shah P, Faber CG, Merkies IS, Dib-Hajj SD, Waxman SG.

Brain Res. 2013 Sep 5;1529:165-77. doi: 10.1016/j.brainres.2013.07.005. Epub 2013 Jul 11.


Molecular architecture of a sodium channel S6 helix: radial tuning of the voltage-gated sodium channel 1.7 activation gate.

Yang Y, Estacion M, Dib-Hajj SD, Waxman SG.

J Biol Chem. 2013 May 10;288(19):13741-7. doi: 10.1074/jbc.M113.462366. Epub 2013 Mar 27.


A new Nav1.7 mutation in an erythromelalgia patient.

Estacion M, Yang Y, Dib-Hajj SD, Tyrrell L, Lin Z, Yang Y, Waxman SG.

Biochem Biophys Res Commun. 2013 Mar 1;432(1):99-104. doi: 10.1016/j.bbrc.2013.01.079. Epub 2013 Jan 30.


Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

Yang Y, Dib-Hajj SD, Zhang J, Zhang Y, Tyrrell L, Estacion M, Waxman SG.

Nat Commun. 2012;3:1186. doi: 10.1038/ncomms2184.


The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms.

Estacion M, Waxman SG.

J Neurophysiol. 2013 Jan;109(2):306-14. doi: 10.1152/jn.00438.2012. Epub 2012 Oct 31.


Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG.

Mol Pain. 2011 Dec 2;7:92. doi: 10.1186/1744-8069-7-92.


Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

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.

Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun 22.


Effects of ranolazine on wild-type and mutant hNav1.7 channels and on DRG neuron excitability.

Estacion M, Waxman SG, Dib-Hajj SD.

Mol Pain. 2010 Jun 8;6:35. doi: 10.1186/1744-8069-6-35.


A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons.

Estacion M, Gasser A, Dib-Hajj SD, Waxman SG.

Exp Neurol. 2010 Aug;224(2):362-8. doi: 10.1016/j.expneurol.2010.04.012. Epub 2010 Apr 24.


Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation.

Estacion M, Choi JS, Eastman EM, Lin Z, Li Y, Tyrrell L, Yang Y, Dib-Hajj SD, Waxman SG.

J Physiol. 2010 Jun 1;588(Pt 11):1915-27. doi: 10.1113/jphysiol.2009.186114. Epub 2010 Feb 1.


A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.

Estacion M, Harty TP, Choi JS, Tyrrell L, Dib-Hajj SD, Waxman SG.

Ann Neurol. 2009 Dec;66(6):862-6. doi: 10.1002/ana.21895.


Maitotoxin converts the plasmalemmal Ca(2+) pump into a Ca(2+)-permeable nonselective cation channel.

Sinkins WG, Estacion M, Prasad V, Goel M, Shull GE, Kunze DL, Schilling WP.

Am J Physiol Cell Physiol. 2009 Dec;297(6):C1533-43. doi: 10.1152/ajpcell.00252.2009. Epub 2009 Sep 30.


Voltage-clamp and current-clamp recordings from mammalian DRG neurons.

Cummins TR, Rush AM, Estacion M, Dib-Hajj SD, Waxman SG.

Nat Protoc. 2009;4(8):1103-12. doi: 10.1038/nprot.2009.91. Epub 2009 Jul 9.


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.


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.

Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG.

J Neurosci. 2008 Oct 22;28(43):11079-88. doi: 10.1523/JNEUROSCI.3443-08.2008.


Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.

Dib-Hajj SD, Estacion M, Jarecki BW, Tyrrell L, Fischer TZ, Lawden M, Cummins TR, Waxman SG.

Mol Pain. 2008 Sep 19;4:37. doi: 10.1186/1744-8069-4-37.


Nav1.9, G-proteins, and nociceptors.

Waxman SG, Estacion M.

J Physiol. 2008 Feb 15;586(4):917-8. doi: 10.1113/jphysiol.2007.149922. No abstract available.


Palytoxin-induced cell death cascade in bovine aortic endothelial cells.

Schilling WP, Snyder D, Sinkins WG, Estacion M.

Am J Physiol Cell Physiol. 2006 Oct;291(4):C657-67. Epub 2006 May 3.


Human TRPC6 expressed in HEK 293 cells forms non-selective cation channels with limited Ca2+ permeability.

Estacion M, Sinkins WG, Jones SW, Applegate MA, Schilling WP.

J Physiol. 2006 Apr 15;572(Pt 2):359-77. Epub 2006 Jan 26.


Identification and localization of TRPC channels in the rat kidney.

Goel M, Sinkins WG, Zuo CD, Estacion M, Schilling WP.

Am J Physiol Renal Physiol. 2006 May;290(5):F1241-52. Epub 2005 Nov 22.


Maitotoxin induces biphasic interleukin-1beta secretion and membrane blebbing in murine macrophages.

Verhoef PA, Kertesy SB, Estacion M, Schilling WP, Dubyak GR.

Mol Pharmacol. 2004 Oct;66(4):909-20. Erratum in: Mol Pharmacol. 2004 Nov;66(5):1359.


Association of immunophilins with mammalian TRPC channels.

Sinkins WG, Goel M, Estacion M, Schilling WP.

J Biol Chem. 2004 Aug 13;279(33):34521-9. Epub 2004 Jun 15.


Maitotoxin-induced cell death cascade in bovine aortic endothelial cells: divalent cation specificity and selectivity.

Wisnoskey BJ, Estacion M, Schilling WP.

Am J Physiol Cell Physiol. 2004 Aug;287(2):C345-56. Epub 2004 Mar 24.


Activation of human TRPC6 channels by receptor stimulation.

Estacion M, Li S, Sinkins WG, Gosling M, Bahra P, Poll C, Westwick J, Schilling WP.

J Biol Chem. 2004 May 21;279(21):22047-56. Epub 2004 Mar 15.


P2X7 receptor-dependent blebbing and the activation of Rho-effector kinases, caspases, and IL-1 beta release.

Verhoef PA, Estacion M, Schilling W, Dubyak GR.

J Immunol. 2003 Jun 1;170(11):5728-38.


Blockade of maitotoxin-induced endothelial cell lysis by glycine and L-alanine.

Estacion M, Weinberg JS, Sinkins WG, Schilling WP.

Am J Physiol Cell Physiol. 2003 Apr;284(4):C1006-20. Epub 2002 Dec 11.


Blockade of maitotoxin-induced oncotic cell death reveals zeiosis.

Estacion M, Schilling WP.

BMC Physiol. 2002;2:2. Epub 2002 Jan 10.


Regulation of Drosophila TRPL channels by immunophilin FKBP59.

Goel M, Garcia R, Estacion M, Schilling WP.

J Biol Chem. 2001 Oct 19;276(42):38762-73. Epub 2001 Aug 20.


Maitotoxin-induced membrane blebbing and cell death in bovine aortic endothelial cells.

Estacion M, Schilling WP.

BMC Physiol. 2001;1:2. Epub 2001 Feb 6.


Maitotoxin activates a nonselective cation channel and a P2Z/P2X(7)-like cytolytic pore in human skin fibroblasts.

Schilling WP, Sinkins WG, Estacion M.

Am J Physiol. 1999 Oct;277(4):C755-65. doi: 10.1152/ajpcell.1999.277.4.C755.


Stimulation of Drosophila TrpL by capacitative Ca2+ entry.

Estacion M, Sinkins WG, Schilling WP.

Biochem J. 1999 Jul 1;341 ( Pt 1):41-9.


Functional expression of TrpC1: a human homologue of the Drosophila Trp channel.

Sinkins WG, Estacion M, Schilling WP.

Biochem J. 1998 Apr 1;331 ( Pt 1):331-9.

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