2025
Correction of sodium channel mutations in sensory neurons reverses aberrant properties
Shim J, Tanaka B, Taub D, Mis M, Schulman B, Snavely A, Cheng Y, Laedermann C, Buttermore E, Ren A, Hermawan C, Dou D, Kawaguchi R, Geschwind D, Dib-Hajj S, Waxman S, Woolf C. Correction of sodium channel mutations in sensory neurons reverses aberrant properties. Brain 2025, awaf155. PMID: 40279376, DOI: 10.1093/brain/awaf155.Peer-Reviewed Original ResearchGain-of-function mutationsSensory neuronsElectrophysiological propertiesDisease presentationVoltage gated sodium channel Nav1.7Paroxysmal extreme pain disorderSmall fiber neuropathySodium channel Nav1.7Rodent sensory neuronsPain-related disordersCell linesSodium channel mutationsInherited ErythromelalgiaEffects of gain-of-function mutationsFiber neuropathyPain disordersChannel mutationsControl iPSCsPatient samplesG mutationIPSCsIon channelsNeuronsPersonalized medicineNav1.7
2020
Cannabidiol interactions with voltage-gated sodium channels
Sait LG, Sula A, Ghovanloo MR, Hollingworth D, Ruben PC, Wallace B. Cannabidiol interactions with voltage-gated sodium channels. ELife 2020, 9: e58593. PMID: 33089780, PMCID: PMC7641581, DOI: 10.7554/elife.58593.Peer-Reviewed Original ResearchConceptsVoltage-gated sodium channelsNavMs voltage-gated sodium channelHigh-resolution X-ray crystallographyIon translocation pathwaySodium channelsCentral hydrophobic cavitySodium channel mutationsTranslocation pathwayMolecular mechanismsNovel siteNovel insightsTRPV2 channelsTarget siteChannel mutationsX-ray crystallographyNon-psychoactive compoundFunctional effectsHydrophobic cavityCannabis plantChannel inhibitionSitesPlantsMutationsNeurological diseasesType of epilepsy
2018
pH Modulation of Voltage-Gated Sodium Channels
Peters CH, Ghovanloo MR, Gershome C, Ruben PC. pH Modulation of Voltage-Gated Sodium Channels. Handbook Of Experimental Pharmacology 2018, 246: 147-160. PMID: 29460150, DOI: 10.1007/164_2018_99.Peer-Reviewed Original ResearchConceptsElectrical diseaseSodium channelsChannel gatingDisease-causing mutantsSodium channel poreTransient sodium currentModulation of VoltageIschemic strokeNon-inactivating channelsSkeletal muscle sodium channelsAcute symptomsCocaine ingestionCardiac ischemiaSodium channel mutationsMuscle sodium channelsSodium currentIsoform specificitySodium channel gatingTissue-level effectsPathophysiological conditionsChannel mutationsSkeletal muscleDiseaseCardiac tissueChannel pore
2010
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 S, Waxman SG. Can robots patch‐clamp as well as humans? Characterization of a novel sodium channel mutation. The Journal Of Physiology 2010, 588: 1915-1927. PMID: 20123784, PMCID: PMC2901980, DOI: 10.1113/jphysiol.2009.186114.Peer-Reviewed Original ResearchA 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. A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons. Experimental Neurology 2010, 224: 362-368. PMID: 20420834, DOI: 10.1016/j.expneurol.2010.04.012.Peer-Reviewed Original ResearchConceptsHippocampal neuronsCardiac muscle sodium channelsCryptogenic partial epilepsyHippocampal neuron excitabilitySodium channelsSomatic pain disordersDifferent sodium channel isoformsHuman chromosome 2Sodium channel isoformsPain disordersPartial epilepsyNeuron excitabilityPathophysiological basisExcitability disordersSpontaneous firingSodium channel mutationsGene SCN1ASodium channelopathiesCharge-neutralizing mutationsRamp currentsMuscle sodium channelsChromosome 2Channel isoformsChannel mutationsFunctional analysis
2006
A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons
Rush AM, Dib-Hajj SD, Liu S, Cummins TR, Black JA, Waxman SG. A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. Proceedings Of The National Academy Of Sciences Of The United States Of America 2006, 103: 8245-8250. PMID: 16702558, PMCID: PMC1472458, DOI: 10.1073/pnas.0602813103.Peer-Reviewed Original ResearchConceptsNeuronal cell typesCell typesChannel mutationsSympathetic neuronsMembrane potentialDifferent cell typesSodium channel mutationsMolecular basisNeuropathic pain syndromesIon channel mutationsSympathetic ganglion neuronsTypes of neuronsSingle mutationSodium channel Nav1.7Ion channelsMutationsPain syndromeSympathetic dysfunctionGanglion neuronsNav1.8 channelsSensory neuronsFunctional effectsChannel Nav1.7HypoexcitabilityNeurons
1999
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans
Bendahhou S, Cummins T, Kwiecinski H, Waxman S, Ptácek L. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans. The Journal Of Physiology 1999, 518: 337-344. PMID: 10381583, PMCID: PMC2269438, DOI: 10.1111/j.1469-7793.1999.0337p.x.Peer-Reviewed Original ResearchConceptsChannel functionMutant channelsHuman embryonic kidney 293 cellsEmbryonic kidney 293 cellsSodium channel alpha subunitAmino acid changesSingle nucleotide substitutionKidney 293 cellsChannel alpha subunitSkeletal muscle voltage-gated sodium channelPosition 1448Sodium channel mutationsParamyotonia congenitaVoltage-gated sodium channelsSodium channel functionNucleotide substitutionsAlpha subunitSingle-strand conformation polymorphism analysisSegment S4Skeletal muscle disordersDomain IVAcid changesNew genetic mutationsDNA sequencingFast inactivation
1993
Functional expression of sodium channel mutations identified in families with periodic paralysis
Cannon S, Strittmatter S. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993, 10: 317-326. PMID: 8382500, DOI: 10.1016/0896-6273(93)90321-h.Peer-Reviewed Original ResearchConceptsSodium channel alpha subunitChannel alpha subunitAlpha subunitFunctional expressionMammalian cell linesSame functional defectSodium channel mutationsBenign polymorphismsSingle-channel conductanceMutationsChannel mutationsCell linesSubunitsMyotubesFunctional defectsPeriodic paralysisProcess of inactivationPotassium dependenceNoninactivating componentNew regionsInactivationExpressionPolymorphismSodium currentFamily
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply