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Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.

Labau JI, Estacion M, Tanaka BS, de Greef BT, Hoeijmakers JG, Geerts M, Gerrits MM, Smeets HJ, Faber CG, Merkies IS, Lauria G, Dib-Hajj SD, Waxman SG.

Brain. 2020 Feb 3. pii: awaa016. doi: 10.1093/brain/awaa016. [Epub ahead of print]


Pharmacological characterization of a rat Nav1.7 loss-of-function model with insensitivity to pain.

Chen L, Effraim P, Carrara J, Zhao P, Dib-Hajj FB, Dib-Hajj SD, Waxman SG.

Pain. 2020 Jan 17. doi: 10.1097/j.pain.0000000000001807. [Epub ahead of print]


SCN9A Neuropathic Pain Syndromes.

Hisama FM, Dib-Hajj SD, Waxman SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2006 May 6 [updated 2020 Jan 23].


Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.

Di Stefano G, Yuan JH, Cruccu G, Waxman SG, Dib-Hajj SD, Truini A.

Cephalalgia. 2020 Jan 13:333102419897623. doi: 10.1177/0333102419897623. [Epub ahead of print]


Spinal cord motor neuron plasticity accompanies second-degree burn injury and chronic pain.

Patwa S, Benson CA, Dyer L, Olson KL, Bangalore L, Hill M, Waxman SG, Tan AM.

Physiol Rep. 2019 Dec;7(23):e14288. doi: 10.14814/phy2.14288.


The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole.

Lee SI, Hoeijmakers JGJ, Faber CG, Merkies ISJ, Lauria G, Waxman SG.

J Neurophysiol. 2020 Feb 1;123(2):645-657. doi: 10.1152/jn.00360.2019. Epub 2019 Dec 18.


A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane.

Sizova DV, Huang J, Akin EJ, Estacion M, Gomis-Perez C, Waxman SG, Dib-Hajj SD.

J Biol Chem. 2020 Jan 24;295(4):1077-1090. doi: 10.1074/jbc.RA119.011424. Epub 2019 Dec 10.


Dexpramipexole blocks Nav1.8 sodium channels and provides analgesia in multiple nociceptive and neuropathic pain models.

Urru M, Muzzi M, Coppi E, Ranieri G, Buonvicino D, Camaioni E, Coppini R, Pugliese AM, Tanaka B, Estacion M, Waxman SG, Dib-Hajj SD, Chiarugi A.

Pain. 2019 Dec 5. doi: 10.1097/j.pain.0000000000001774. [Epub ahead of print]


Building sensory axons: Delivery and distribution of NaV1.7 channels and effects of inflammatory mediators.

Akin EJ, Higerd GP, Mis MA, Tanaka BS, Adi T, Liu S, Dib-Hajj FB, Waxman SG, Dib-Hajj SD.

Sci Adv. 2019 Oct 23;5(10):eaax4755. doi: 10.1126/sciadv.aax4755. eCollection 2019 Oct.


A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain.

Huang J, Estacion M, Zhao P, Dib-Hajj FB, Schulman B, Abicht A, Kurth I, Brockmann K, Waxman SG, Dib-Hajj SD.

Front Neurosci. 2019 Sep 3;13:918. doi: 10.3389/fnins.2019.00918. eCollection 2019.


Rat NaV1.7 loss-of-function genetic model: Deficient nociceptive and neuropathic pain behavior with retained olfactory function and intra-epidermal nerve fibers.

Grubinska B, Chen L, Alsaloum M, Rampal N, Matson DJ, Yang C, Taborn K, Zhang M, Youngblood B, Liu D, Galbreath E, Allred S, Lepherd M, Ferrando R, Kornecook TJ, Lehto SG, Waxman SG, Moyer BD, Dib-Hajj S, Gingras J.

Mol Pain. 2019 Jan-Dec;15:1744806919881846. doi: 10.1177/1744806919881846. No abstract available.


Fibroblast growth factor homologous factor 2 (FGF-13) associates with Nav1.7 in DRG neurons and alters its current properties in an isoform-dependent manner.

Effraim PR, Huang J, Lampert A, Stamboulian S, Zhao P, Black JA, Dib-Hajj SD, Waxman SG.

Neurobiol Pain. 2019 Mar 27;6:100029. doi: 10.1016/j.ynpai.2019.100029. eCollection 2019 Aug-Dec.


NaV 1.6 regulates excitability of mechanosensitive sensory neurons.

Israel MR, Tanaka BS, Castro J, Thongyoo P, Robinson SD, Zhao P, Deuis JR, Craik DJ, Durek T, Brierley SM, Waxman SG, Dib-Hajj SD, Vetter I.

J Physiol. 2019 Jul;597(14):3751-3768. doi: 10.1113/JP278148. Epub 2019 May 13.


A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy.

Alsaloum M, Estacion M, Almomani R, Gerrits MM, Bönhof GJ, Ziegler D, Malik R, Ferdousi M, Lauria G, Merkies IS, Faber CG, Dib-Hajj S, Waxman SG; Propane Study Group.

Mol Pain. 2019 Jan-Dec;15:1744806919849802. doi: 10.1177/1744806919849802.


Pointer-kindreds and pain: big lessons from small families.

Waxman SG.

Pain. 2019 May;160 Suppl 1:S49-S52. doi: 10.1097/j.pain.0000000000001492.


Restoration of brain circulation and cellular functions hours post-mortem.

Vrselja Z, Daniele SG, Silbereis J, Talpo F, Morozov YM, Sousa AMM, Tanaka BS, Skarica M, Pletikos M, Kaur N, Zhuang ZW, Liu Z, Alkawadri R, Sinusas AJ, Latham SR, Waxman SG, Sestan N.

Nature. 2019 Apr;568(7752):336-343. doi: 10.1038/s41586-019-1099-1. Epub 2019 Apr 17.


Peripheral afferents and the pain experience.

Waxman SG.

Pain. 2019 Jul;160(7):1487-1488. doi: 10.1097/j.pain.0000000000001527. No abstract available.


The Two Sides of NaV1.7: Painful and Painless Channelopathies.

Waxman SG, Dib-Hajj SD.

Neuron. 2019 Mar 6;101(5):765-767. doi: 10.1016/j.neuron.2019.02.016.


Alabama to Beijing… and Back: The Search for a Pain Gene.

Waxman SG.

Cerebrum. 2018 Jan 1;2018. pii: cer-02-18. eCollection 2018 Jan-Feb.


Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics.

Dib-Hajj SD, Waxman SG.

Annu Rev Neurosci. 2019 Jul 8;42:87-106. doi: 10.1146/annurev-neuro-070918-050144. Epub 2019 Jan 31.


The Role of Voltage-Gated Sodium Channels in Pain Signaling.

Bennett DL, Clark AJ, Huang J, Waxman SG, Dib-Hajj SD.

Physiol Rev. 2019 Apr 1;99(2):1079-1151. doi: 10.1152/physrev.00052.2017. Review.


Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial.

de Greef BTA, Hoeijmakers JGJ, Geerts M, Oakes M, Church TJE, Waxman SG, Dib-Hajj SD, Faber CG, Merkies ISJ.

Brain. 2019 Feb 1;142(2):263-275. doi: 10.1093/brain/awy329.


Small-fiber neuropathy: Expanding the clinical pain universe.

Sopacua M, Hoeijmakers JGJ, Merkies ISJ, Lauria G, Waxman SG, Faber CG.

J Peripher Nerv Syst. 2019 Mar;24(1):19-33. doi: 10.1111/jns.12298. Epub 2019 Jan 8. Review.


Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM.

J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):342-352. doi: 10.1136/jnnp-2018-319042. Epub 2018 Dec 15.


Detection of local and remote cellular damage caused by spinal cord and peripheral nerve injury using a heat shock signaling reporter system.

Hashimoto-Torii K, Sasaki M, Chang YW, Hwang H, Waxman SG, Kocsis JD, Rakic P, Torii M.

IBRO Rep. 2018 Nov 6;5:91-98. doi: 10.1016/j.ibror.2018.11.003. eCollection 2018 Dec.


Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp.

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.

J Neurosci. 2019 Jan 16;39(3):382-392. doi: 10.1523/JNEUROSCI.2433-18.2018. Epub 2018 Nov 20.


Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.

Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM.

J Pediatr. 2019 Mar;206:217-224.e9. doi: 10.1016/j.jpeds.2018.10.024. Epub 2018 Nov 9.


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.


Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.

Eijkenboom I, Sopacua M, Otten ABC, Gerrits MM, Hoeijmakers JGJ, Waxman SG, Lombardi R, Lauria G, Merkies ISJ, Smeets HJM, Faber CG, Vanoevelen JM; PROPANE Study Group.

Exp Neurol. 2019 Jan;311:257-264. doi: 10.1016/j.expneurol.2018.10.008. Epub 2018 Oct 11.


Nav1.5 in astrocytes plays a sex-specific role in clinical outcomes in a mouse model of multiple sclerosis.

Pappalardo LW, Samad OA, Liu S, Zwinger PJ, Black JA, Waxman SG.

Glia. 2018 Oct;66(10):2174-2187. doi: 10.1002/glia.23470. Epub 2018 Sep 8.


Somatosensory Neurons Enter a State of Altered Excitability during Hibernation.

Hoffstaetter LJ, Mastrotto M, Merriman DK, Dib-Hajj SD, Waxman SG, Bagriantsev SN, Gracheva EO.

Curr Biol. 2018 Sep 24;28(18):2998-3004.e3. doi: 10.1016/j.cub.2018.07.020. Epub 2018 Aug 30.


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.


Multiple myosin motors interact with sodium/potassium-ATPase alpha 1 subunits.

Dash B, Dib-Hajj SD, Waxman SG.

Mol Brain. 2018 Aug 7;11(1):45. doi: 10.1186/s13041-018-0388-1.


Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Nettuwakul C, Praditsap O, Sawasdee N, Rungroj N, Ruamyod K, Watanapa WB, Junking M, Sangnual S, Sritippayawan S, Cheunsuchon B, Chuawattana D, Rojsatapong S, Chaowagul W, Dib-Hajj SD, Waxman SG, Yenchitsomanus PT.

Sci Rep. 2018 Jul 11;8(1):10453. doi: 10.1038/s41598-018-28623-3.


Therapeutic potential of Pak1 inhibition for pain associated with cutaneous burn injury.

Guo Y, Benson C, Hill M, Henry S, Effraim P, Waxman SG, Dib-Hajj S, Tan AM.

Mol Pain. 2018 Jan-Dec;14:1744806918788648. doi: 10.1177/1744806918788648. Epub 2018 Jun 29.


Nonmuscle myosin II isoforms interact with sodium channel alpha subunits.

Dash B, Han C, Waxman SG, Dib-Hajj SD.

Mol Pain. 2018 Jan-Dec;14:1744806918788638. doi: 10.1177/1744806918788638. Epub 2018 Jun 29.


Differential aging-related changes in neurophysiology and gene expression in IB4-positive and IB4-negative nociceptive neurons.

Mis MA, Rogers MF, Jeffries AR, Wilbrey AL, Chen L, Yang Y, Dib-Hajj S, Waxman SG, Stevens EB, Randall AD.

Aging Cell. 2018 Aug;17(4):e12795. doi: 10.1111/acel.12795. Epub 2018 Jun 25.


Nav1.7 is phosphorylated by Fyn tyrosine kinase which modulates channel expression and gating in a cell type-dependent manner.

Li Y, Zhu T, Yang H, Dib-Hajj SD, Waxman SG, Yu Y, Xu TL, Cheng X.

Mol Pain. 2018 Jan-Dec;14:1744806918782229. doi: 10.1177/1744806918782229. Epub 2018 May 23.


Conditional knockout of NaV1.6 in adult mice ameliorates neuropathic pain.

Chen L, Huang J, Zhao P, Persson AK, Dib-Hajj FB, Cheng X, Tan A, Waxman SG, Dib-Hajj SD.

Sci Rep. 2018 Mar 1;8(1):3845. doi: 10.1038/s41598-018-22216-w.


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.


Brain activity associated with pain in inherited erythromelalgia: stimulus-free pain engages brain areas involved in valuation and learning.

Geha P, Schulman BR, Dib-Hajj SD, Waxman SG.

Neurobiol Pain. 2018 Jan-Jul;3:8-14. doi: 10.1016/j.ynpai.2018.01.002. Epub 2018 Jan 31.


Ode to Glia: A Tribute to Bruce Ransom.

Waxman SG, Black JA.

Neurochem Res. 2017 Sep;42(9):2442. doi: 10.1007/s11064-017-2368-8. No abstract available.


Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.

Yang Y, Adi T, Effraim PR, Chen L, Dib-Hajj SD, Waxman SG.

Br J Pharmacol. 2018 Jun;175(12):2261-2271. doi: 10.1111/bph.13935. Epub 2017 Jul 30.


Corrigendum: Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a.

Deuis JR, Dekan Z, Wingerd JS, Smith JJ, Munasinghe NR, Bhola RF, Imlach WL, Herzig V, Armstrong DA, Rosengren KJ, Bosmans F, Waxman SG, Dib-Hajj SD, Escoubas P, Minett MS, Christie MJ, King GF, Alewood PF, Lewis RJ, Wood JN, Vetter I.

Sci Rep. 2017 May 26;7:46816. doi: 10.1038/srep46816. No abstract available.


Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Huang J, Vanoye CG, Cutts A, Goldberg YP, Dib-Hajj SD, Cohen CJ, Waxman SG, George AL Jr.

J Clin Invest. 2017 Jun 30;127(7):2805-2814. doi: 10.1172/JCI92373. Epub 2017 May 22.


Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development.

Tanaka BS, Nguyen PT, Zhou EY, Yang Y, Yarov-Yarovoy V, Dib-Hajj SD, Waxman SG.

J Biol Chem. 2017 Jun 2;292(22):9262-9272. doi: 10.1074/jbc.M117.778779. Epub 2017 Apr 5.


Dendritic spine dysgenesis in superficial dorsal horn sensory neurons after spinal cord injury.

Cao XC, Pappalardo LW, Waxman SG, Tan AM.

Mol Pain. 2017 Jan;13:1744806916688016. doi: 10.1177/1744806916688016.


Sodium channels in pain disorders: pathophysiology and prospects for treatment.

Dib-Hajj SD, Geha P, Waxman SG.

Pain. 2017 Apr;158 Suppl 1:S97-S107. doi: 10.1097/j.pain.0000000000000854. Review. No abstract available.


Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D, Sassone J, Yang Y, Galbardi B, Xenakis MN, Westra RL, Szklarczyk R, Lindsey P, Faber CG, Gerrits M, Merkies IS, Dib-Hajj SD, Mantegazza M, Waxman SG, Lauria G; PROPANE Study Group.

BMC Syst Biol. 2017 Feb 24;11(1):28. doi: 10.1186/s12918-016-0382-0.

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