PubMed

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.PMID: 18803825 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 18945915 [PubMed - indexed for MEDLINE]Related articlesFree article

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG.

J Neurosci. 2006 Nov 29;26(48):12566-75.PMID: 17135418 [PubMed - indexed for MEDLINE]Related articlesFree article

Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.

Jarecki BW, Sheets PL, Jackson JO 2nd, Cummins TR.

J Physiol. 2008 Sep 1;586(Pt 17):4137-53. Epub 2008 Jul 3.PMID: 18599537 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.

Cheng X, Dib-Hajj SD, Tyrrell L, Waxman SG.

Mol Pain. 2008 Jan 2;4:1.PMID: 18171466 [PubMed - indexed for MEDLINE]Related articlesFree article

Distinct repriming and closed-state inactivation kinetics of Nav1.6 and Nav1.7 sodium channels in mouse spinal sensory neurons.

Herzog RI, Cummins TR, Ghassemi F, Dib-Hajj SD, Waxman SG.

J Physiol. 2003 Sep 15;551(Pt 3):741-50. Epub 2003 Jul 3.PMID: 12843211 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.

Dib-Hajj SD, Yang Y, Waxman SG.

Adv Genet. 2008;63:85-110. Review.PMID: 19185186 [PubMed - indexed for MEDLINE]Related articles

Inactivation properties of sodium channel Nav1.8 maintain action potential amplitude in small DRG neurons in the context of depolarization.

Patrick Harty T, Waxman SG.

Mol Pain. 2007 May 31;3:12.PMID: 17540018 [PubMed - indexed for MEDLINE]Related articlesFree article

Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.

Han C, Lampert A, Rush AM, Dib-Hajj SD, Wang X, Yang Y, Waxman SG.

Mol Pain. 2007 Jan 19;3:3.PMID: 17239250 [PubMed - indexed for MEDLINE]Related articlesFree article

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M.

Neuron. 2006 Dec 7;52(5):767-74.PMID: 17145499 [PubMed - indexed for MEDLINE]Related articles

Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

Jarecki BW, Piekarz AD, Jackson JO 2nd, Cummins TR.

J Clin Invest. 2010 Jan;120(1):369-78. doi: 10.1172/JCI40801. Epub 2009 Dec 28.PMID: 20038812 [PubMed - indexed for MEDLINE]Related articlesFree article

Calmodulin regulates current density and frequency-dependent inhibition of sodium channel Nav1.8 in DRG neurons.

Choi JS, Hudmon A, Waxman SG, Dib-Hajj SD.

J Neurophysiol. 2006 Jul;96(1):97-108. Epub 2006 Apr 5.PMID: 16598065 [PubMed - indexed for MEDLINE]Related articlesFree article

Differential slow inactivation and use-dependent inhibition of Nav1.8 channels contribute to distinct firing properties in IB4+ and IB4- DRG neurons.

Choi JS, Dib-Hajj SD, Waxman SG.

J Neurophysiol. 2007 Feb;97(2):1258-65. Epub 2006 Nov 15.PMID: 17108087 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of the variation in use-dependent inactivation of high-threshold tetrodotoxin-resistant sodium currents recorded from rat sensory neurons.

Tripathi PK, Trujillo L, Cardenas CA, Cardenas CG, de Armendi AJ, Scroggs RS.

Neuroscience. 2006 Dec 28;143(4):923-38. Epub 2006 Oct 4.PMID: 17027172 [PubMed - indexed for MEDLINE]Related articles

Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.

Jarecki BW, Sheets PL, Xiao Y, Jackson JO 2nd, Cummins TR.

Channels (Austin). 2009 Jul-Aug;3(4):259-67. Epub 2009 Jul 23.PMID: 19633428 [PubMed - indexed for MEDLINE]Related articlesFree article

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

Bouhours M, Luce S, Sternberg D, Willer JC, Fontaine B, Tabti N.

J Physiol. 2005 Jun 1;565(Pt 2):415-27. Epub 2005 Mar 24.PMID: 15790667 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

Bouhours M, Sternberg D, Davoine CS, Ferrer X, Willer JC, Fontaine B, Tabti N.

J Physiol. 2004 Feb 1;554(Pt 3):635-47. Epub 2003 Nov 14.PMID: 14617673 [PubMed - indexed for MEDLINE]Related articlesFree article

Relationship between sodium channel NaV1.3 expression and neuropathic pain behavior in rats.

Lindia JA, Köhler MG, Martin WJ, Abbadie C.

Pain. 2005 Sep;117(1-2):145-53.PMID: 16061326 [PubMed - indexed for MEDLINE]Related articles

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG.

Brain. 2005 Aug;128(Pt 8):1847-54. Epub 2005 Jun 15.PMID: 15958509 [PubMed - indexed for MEDLINE]Related articlesFree article

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.

Lampert A, Dib-Hajj SD, Tyrrell L, Waxman SG.

J Biol Chem. 2006 Nov 24;281(47):36029-35. Epub 2006 Sep 28.PMID: 17008310 [PubMed - indexed for MEDLINE]Related articlesFree article