2023
Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
Yuan J, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib‐Hajj F, Dib‐Hajj S, Waxman S, Takashima H. Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders. Journal Of The Peripheral Nervous System 2023, 28: 597-607. PMID: 37555797, DOI: 10.1111/jns.12590.Peer-Reviewed Original ResearchMeSH KeywordsErythromelalgiaHEK293 CellsHumansMutationNAV1.7 Voltage-Gated Sodium ChannelPainPeripheral Nervous System DiseasesConceptsParoxysmal extreme pain disorderPainful peripheral neuropathyPain disordersSCN9A mutationsPeripheral neuropathyNovel SCN9A mutationsVoltage-gated sodium channel Nav1.7Sodium channel Nav1.7Steady-state fast inactivationGene panel sequencingPatch-clamp analysisAutonomic neuropathyNeuropathic painSCN9A geneClinical featuresUnderlying pathogenesisPathological studiesPatientsChannel Nav1.7EM phenotypePhenotypic spectrumNeuropathyNav1.7 channelsPatch-clamp systemElectrophysiological analysis
2018
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 S, Waxman S. A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy. Molecular Pain 2018, 14: 1744806918815007. PMID: 30392441, PMCID: PMC6856981, DOI: 10.1177/1744806918815007.Peer-Reviewed Original ResearchMeSH KeywordsCarbamazepineGain of Function MutationGanglia, SpinalHumansMembrane PotentialsMiddle AgedMutationNAV1.7 Voltage-Gated Sodium ChannelNeuralgiaNeuronsPainPeripheral Nervous System DiseasesConceptsPainful peripheral neuropathyDorsal root gangliaPeripheral neuropathyUse-dependent inhibitionDRG neuronsPain disordersM variantFunction Nav1.7 mutationsMulti-electrode array recordingsSympathetic ganglion neuronsCommon pain disordersVoltage-clamp recordingsVoltage-gated sodium channel NaRare MendelianNav1.7 mutationGanglion neuronsSodium channel NaTrigeminal ganglionRoot gangliaNeonatal ratsPatientsNeuropathyMutant channelsFunction variantsNeurons
2017
COL6A5 variants in familial neuropathic chronic itch
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D, Network F, Cocca M, Doglioni C, Waxman S, Dib-Hajj S, Taiana M, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. COL6A5 variants in familial neuropathic chronic itch. Brain 2017, 140: 555-567. PMID: 28073787, DOI: 10.1093/brain/aww343.Peer-Reviewed Original ResearchMeSH KeywordsAdultCollagen Type VIDNA Mutational AnalysisFamily HealthFemaleGenetic VariationHumansMaleMiddle AgedPeripheral Nervous System DiseasesPruritusSkinConceptsChronic itchSmall fiber neuropathyJHS/EDS-HT patientsJoint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility typeNew candidate therapeutic targetsIntraepidermal nerve fiber densityEhlers-Danlos syndrome hypermobility typeEDS-HT patientsNonsense variantNerve fiber densitySkin of patientsCandidate therapeutic targetUnrelated sporadic patientsWhole-exome sequencingItch reliefNeuropathic itchDiabetic patientsHypermobility typeSomatosensory pathwaysHealthy controlsSkin biopsiesSide effectsTherapeutic targetPatientsSporadic patients
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 ResearchMeSH KeywordsAction PotentialsAnimalsCentral Nervous System DiseasesHumansIon ChannelsMultiple SclerosisPeripheral Nervous System DiseasesSodium ChannelsTranscription, GeneticConceptsNerve 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 conductionChannelopathies
1993
Peripheral nerve abnormalities in multiple sclerosis
Waxman S. Peripheral nerve abnormalities in multiple sclerosis. Muscle & Nerve 1993, 16: 1-5. PMID: 8380899, DOI: 10.1002/mus.880160102.Peer-Reviewed Original ResearchCentral Nervous SystemDemyelinating DiseasesGanglia, SpinalHumansMultiple SclerosisNeural ConductionPeripheral Nervous System Diseases
1976
Probability of conduction deficit as related to fiber length in random-distribution models of peripheral neuropathies
Waxman S, Brill M, Geschwind N, Sabin T, Lettvin J. Probability of conduction deficit as related to fiber length in random-distribution models of peripheral neuropathies. Journal Of The Neurological Sciences 1976, 29: 39-53. PMID: 181541, DOI: 10.1016/0022-510x(76)90079-4.Peer-Reviewed Original ResearchMeSH KeywordsHumansMathematicsModels, NeurologicalNeural ConductionParesthesiaPeripheral Nervous System DiseasesProbabilityConceptsPeripheral neuropathyAxonal dysfunctionSensory deficitsDistal sensory deficitsNormal sensory conductionRapid clinical progressionConduction deficitsSensory conductionClinical progressionNerve fibersConduction blockNeuropathyDysfunctionMarked reductionProximodistal gradientPossible correlatesDeficitsSmall increaseParesthesiaeAbnormalitiesProgression