PubMed

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]Free PMC ArticleFree textRelated citations

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]Free ArticleRelated citations

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

Lampert A, Dib-Hajj SD, Eastman EM, Tyrrell L, Lin Z, Yang Y, Waxman SG.

Biochem Biophys Res Commun. 2009 Dec 11;390(2):319-24. Epub 2009 Oct 1.PMID: 19800314 [PubMed - indexed for MEDLINE]Related citations

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

Choi JS, Zhang L, Dib-Hajj SD, Han C, Tyrrell L, Lin Z, Wang X, Yang Y, Waxman SG.

Exp Neurol. 2009 Apr;216(2):383-9. Epub 2008 Dec 31.PMID: 19162012 [PubMed - indexed for MEDLINE]Related citations

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

Han C, Rush AM, Dib-Hajj SD, Li S, Xu Z, Wang Y, Tyrrell L, Wang X, Yang Y, Waxman SG.

Ann Neurol. 2006 Mar;59(3):553-8.PMID: 16392115 [PubMed - indexed for MEDLINE]Related citations

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]Free ArticleRelated citations

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]Free PMC ArticleFree textRelated citations

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]Free ArticleRelated citations

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity.

Sheets PL, Jackson JO 2nd, Waxman SG, Dib-Hajj SD, Cummins TR.

J Physiol. 2007 Jun 15;581(Pt 3):1019-31. Epub 2007 Apr 12.PMID: 17430993 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

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.PMID: 19557861 [PubMed - indexed for MEDLINE]Related citations

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.

Choi JS, Dib-Hajj SD, Waxman SG.

Neurology. 2006 Nov 14;67(9):1563-7. Epub 2006 Sep 20.PMID: 16988069 [PubMed - indexed for MEDLINE]Related citations

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

Cummins TR, Dib-Hajj SD, Waxman SG.

J Neurosci. 2004 Sep 22;24(38):8232-6.PMID: 15385606 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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.PMID: 20529343 [PubMed - in process]Free PMC ArticleFree textRelated citations

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]Free ArticleRelated citations

[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene]

Drenth JP, te Morsche RH, Michiels JJ.

Ned Tijdschr Geneeskd. 2006 Jan 28;150(4):194-6. Review. Dutch. PMID: 16471234 [PubMed - indexed for MEDLINE]Related citations

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, Tyrrell L, Cao X, Yang Y, Waxman SG.

Brain. 2009 Jul;132(Pt 7):1711-22. Epub 2009 Apr 15.PMID: 19369487 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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]Free PMC ArticleFree textRelated citations

Erythermalgia: molecular basis for an inherited pain syndrome.

Waxman SG, Dib-Hajj S.

Trends Mol Med. 2005 Dec;11(12):555-62. Epub 2005 Nov 8. Review.PMID: 16278094 [PubMed - indexed for MEDLINE]Related citations

A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation.

Lampert A, O'Reilly AO, Dib-Hajj SD, Tyrrell L, Wallace BA, Waxman SG.

J Biol Chem. 2008 Aug 29;283(35):24118-27. Epub 2008 Jun 12.PMID: 18550534 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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]Free PMC ArticleFree textRelated citations