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 ResearchConceptsPainful 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 ResearchConceptsChronic 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
2015
Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy
Doppler K, Appeltshauser L, Krämer HH, Ng JK, Meinl E, Villmann C, Brophy P, Dib-Hajj SD, Waxman SG, Weishaupt A, Sommer C. Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy. PLOS ONE 2015, 10: e0134274. PMID: 26218529, PMCID: PMC4517860, DOI: 10.1371/journal.pone.0134274.Peer-Reviewed Original ResearchConceptsMultifocal motor neuropathyMotor neuropathyContactin-1Neurofascin 155Multifocal motor neuropathy patientsChronic inflammatory demyelinating polyneuropathyInflammatory demyelinating polyneuropathySubgroup of patientsNeurofascin-186Enzyme-linked immunosorbentHuman embryonic kidney 293 cellsDemyelinating polyneuropathyAuto antibodiesEmbryonic kidney 293 cellsMuscle weaknessNeuropathy patientsPatient seraConduction blockParanodal proteinsNeuropathyPatientsKidney 293 cellsIgMSerumDifferent assays
2008
Multiple sodium channel isoforms and mitogen‐activated protein kinases are present in painful human neuromas
Black JA, Nikolajsen L, Kroner K, Jensen TS, Waxman SG. Multiple sodium channel isoforms and mitogen‐activated protein kinases are present in painful human neuromas. Annals Of Neurology 2008, 64: 644-653. PMID: 19107992, DOI: 10.1002/ana.21527.Peer-Reviewed Original ResearchConceptsMultiple sodium channel isoformsHuman neuromasSodium channel isoformsPainful neuromasMitogen-activated protein kinaseERK1/2 MAP kinasesNeuronal voltage-gated sodium channelsChannel isoformsSodium channel Nav1.3Sodium channelsSpontaneous ectopic dischargeTreatment of painSodium channel Nav1.1Possible therapeutic targetVoltage-gated sodium channelsMAP kinase p38Ectopic dischargesChronic painTraumatic neuromaChannel Nav1.1MAP kinaseExtracellular signal-regulated kinases 1NeuromaTherapeutic targetPain
2000
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
Bendahhou S, Cummins T, Hahn A, Langlois S, Waxman S, Ptácek L. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. Journal Of Clinical Investigation 2000, 106: 431-438. PMID: 10930446, PMCID: PMC314328, DOI: 10.1172/jci9654.Peer-Reviewed Original ResearchConceptsChannel slow inactivationPeriodic paralysisSlow inactivationSodium channel slow inactivationMalignant hyperthermia susceptibilitySkeletal muscle disordersHuman skeletal muscleParalytic attacksMuscle disordersHyperkalemic periodic paralysisSkeletal muscleParalysisDisease-causing mutationsNovel mutationsHyperKPPChannel defectsMolecular determinantsAlpha subunitMutant channelsMutationsDouble mutationInactivationPatientsTransmembrane segments S5
1999
Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation
Bendahhou S, Cummins T, Tawil R, Waxman S, Ptácek L. Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation. Journal Of Neuroscience 1999, 19: 4762-4771. PMID: 10366610, PMCID: PMC6782655, DOI: 10.1523/jneurosci.19-12-04762.1999.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedDNA Mutational AnalysisDNA PrimersGene ExpressionHumansHyperkalemiaIon Channel GatingKidneyKineticsMaleMiddle AgedMolecular Sequence DataNAV1.4 Voltage-Gated Sodium ChannelParalyses, Familial PeriodicPatch-Clamp TechniquesPoint MutationProtein Structure, TertiarySequence Homology, Amino AcidSodium ChannelsTransfectionConceptsSegments S5Point mutationsS5 segmentVoltage-Gated Sodium ChannelSodium channelsTransmembrane segments S5Cytoplasmic interfaceWild-type channelsParalysis phenotypeHomologous domainsVoltage-sensitive sodium channelsPotassium-aggravated myotoniaNew point mutationPhenylalanine substitutionSkeletal muscle disordersHyperkalaemic periodic paralysisFast inactivationSecond domainMutationsGenesChannel deactivationInactivationChannel activationSlow inactivationT704M mutation
1988
Evoked potentials in suspected multiple sclerosis: Diagnostic value and prediction of clinical course
Hume A, Waxman S. Evoked potentials in suspected multiple sclerosis: Diagnostic value and prediction of clinical course. Journal Of The Neurological Sciences 1988, 83: 191-210. PMID: 3128646, DOI: 10.1016/0022-510x(88)90068-8.Peer-Reviewed Original ResearchConceptsSilent lesionsMultiple sclerosisOptic neuritisIsolated optic neuritisDefinite multiple sclerosisEP abnormalitiesMS suspectsClinical deteriorationBrainstem auditoryClinical courseVisual EPsChance of deteriorationNeurologic disordersOnly abnormalityNormal EPsPatientsAuditory EPsClinical diagnosisDiagnostic valueLesionsSclerosisNeuritisChronicAbnormalitiesFollow
1986
Thalamic hemorrhage with neglect and memory disorder
Waxman S, Ricaurte G, Tucker S. Thalamic hemorrhage with neglect and memory disorder. Journal Of The Neurological Sciences 1986, 75: 105-112. PMID: 3746338, DOI: 10.1016/0022-510x(86)90053-5.Peer-Reviewed Original ResearchConceptsThalamic hemorrhage
1983
Temporal profile resembling TIA in the setting of cerebral infarction.
Waxman S, Toole J. Temporal profile resembling TIA in the setting of cerebral infarction. Stroke 1983, 14: 433-437. PMID: 6658915, DOI: 10.1161/01.str.14.3.433.Peer-Reviewed Original Research
1981
Diabetic Truncal Polyneuropathy
Waxman S, Sabin T. Diabetic Truncal Polyneuropathy. JAMA Neurology 1981, 38: 46-47. PMID: 7458723, DOI: 10.1001/archneur.1981.00510010072013.Peer-Reviewed Original ResearchClinicopathological correlations in multiple sclerosis and related diseases.
Waxman S. Clinicopathological correlations in multiple sclerosis and related diseases. Advances In Neurology 1981, 31: 169-82. PMID: 7325041.Peer-Reviewed Original Research
1980
Myoelectric silence following unopposed passive stretch in normal man.
Angel R, Waxman S, Kocsis J. Myoelectric silence following unopposed passive stretch in normal man. Journal Of Neurology Neurosurgery & Psychiatry 1980, 43: 705. PMID: 7431031, PMCID: PMC490642, DOI: 10.1136/jnnp.43.8.705.Peer-Reviewed Original ResearchConceptsNormal menMyoelectric silencePassive stretchAfferent reflex pathwaysPassive muscle stretchSpindle afferent dischargeAutogenetic inhibitionLengthening reactionReflex pathwaysSustained contractionAfferent dischargeMyotatic reflexEMG activityMuscle stretchLower limbsSilent periodFusimotor activityRenshaw inhibitionInitial responseBrief cessationMuscleMenPossible mechanismInhibitionResponse
1979
The flexion-adduction sign in neuralgic amyotrophy.
Waxman S. The flexion-adduction sign in neuralgic amyotrophy. Neurology 1979, 29: 1301-4. PMID: 573411, DOI: 10.1212/wnl.29.9_part_1.1301.Peer-Reviewed Original Research
1976
Acute confusional states with right middle cerebral artery infarctions.
Mesulam M, Waxman S, Geschwind N, Sabin T. Acute confusional states with right middle cerebral artery infarctions. Journal Of Neurology Neurosurgery & Psychiatry 1976, 39: 84. PMID: 1255216, PMCID: PMC492219, DOI: 10.1136/jnnp.39.1.84.Peer-Reviewed Original ResearchConceptsAcute confusional stateConfusional stateRight middle cerebral artery infarctionRight middle cerebral arteryMiddle cerebral artery infarctionCerebral artery infarctionMiddle cerebral arteryArtery infarctionCerebral arteryCortical connectionsAssociation cortexMonkey brainHomologous areasInfarctionMain deficitsDeficitsPatientsArteryLesionsCortexBrain