2007
Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype
Waxman SG. Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype. Nature Neuroscience 2007, 10: 405-409. PMID: 17387329, DOI: 10.1038/nn1857.Peer-Reviewed Original ResearchConceptsSodium channel functionClinical manifestationsClinical statusNeuronal functionChannel functionPositive clinical manifestationsSodium channelsIon channel mutationsNegative clinical manifestationsNeuronal hyperexcitabilityNeuronal hypoexcitabilityNeuronal activityClinical functionNervous systemSodium channelopathiesChannelopathiesChannel mutationsManifestationsCell backgroundPhysiological propertiesStatusHyperexcitabilityHypoexcitabilitySeizuresParalysis
2006
Transcriptional Channelopathies of the Nervous System
Waxman S. Transcriptional Channelopathies of the Nervous System. 2006 DOI: 10.1002/9780470015902.a0006086.Peer-Reviewed Original ResearchSodium channel geneChannel genesTranscriptional channelopathiesSodium channel gene expressionChannel gene expressionGene expressionPeripheral nerve injurySpinal sensory neuronsGenesDysregulated expressionNerve injuryMultiple sclerosisSensory neuronsNervous systemCerebellar functionRecent studiesExpressionChannelopathiesAbstract Recent studiesHyperexcitabilitySclerosisInjuryNeuronsCells
2005
Chapter 19 Transcriptional Channelopathies of the Nervous System New Targets for Molecular Medicine
Waxman S. Chapter 19 Transcriptional Channelopathies of the Nervous System New Targets for Molecular Medicine. 2005, 319-338. DOI: 10.1016/b978-012738903-5/50020-5.Peer-Reviewed Original ResearchTranscriptional channelopathiesIon channel genesChannel genesUnique amino acid sequenceAmino acid sequenceVoltage-gated sodium channelsGene productsAcid sequenceNew therapeutic opportunitiesProtein structureGenesTranscriptionNeuronal functionMolecular targetsMolecular medicineChannel transcriptionNew targetsNew therapeutic strategiesTherapeutic opportunitiesSodium channelsSpecific targetingComplete understandingChannelopathiesTherapeutic strategiesNervous system
2001
Transcriptional channelopathies: An emerging class of disorders
Waxman S. Transcriptional channelopathies: An emerging class of disorders. Nature Reviews Neuroscience 2001, 2: 652-659. PMID: 11533733, DOI: 10.1038/35090026.Peer-Reviewed Original ResearchConceptsNerve injuryMultiple sclerosisSodium channel geneTranscriptional channelopathiesChannel transcriptionPeripheral nerve injurySpinal sensory neuronsChannel genesExperimental nerve injuryFamily of disordersAction potential conductionAutoimmune channelopathiesDemyelinated nervesNeuropathic painDemyelinating conditionMotor abnormalitiesNeurotrophic factorClass of disordersSensory neuronsCalcium channelsChannel expressionCerebellar ataxiaPurkinje cellsPotential conductionChannelopathiesAcquired channelopathies in nerve injury and MS
Waxman S. Acquired channelopathies in nerve injury and MS. Neurology 2001, 56: 1621-1627. PMID: 11428390, DOI: 10.1212/wnl.56.12.1621.Peer-Reviewed Original ResearchConceptsNerve injurySodium channelsSensory neuron-specific sodium channelsSodium channel geneChannel genesPeripheral nerve injurySpinal sensory neuronsPathophysiology of MSSubtype-specific drugsDistinct sodium channelsVoltage-gated sodium channelsSpecific sodium channelsAxonal transectionGenetic channelopathyPrototype disorderSensory neuronsPurkinje cellsTherapeutic opportunitiesChannelopathiesAbnormal expressionInjuryMolecular changesHyperexcitabilityCellsTransection