2016
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling
Geha P, Yang Y, Estacion M, Schulman BR, Tokuno H, Apkarian AV, Dib-Hajj SD, Waxman SG. Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling. JAMA Neurology 2016, 73: 659. PMID: 27088781, DOI: 10.1001/jamaneurol.2016.0389.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAdultAnalgesics, Non-NarcoticBrainCarbamazepineChronic PainDNA Mutational AnalysisDouble-Blind MethodElectric StimulationErythromelalgiaFemaleGanglia, SpinalHumansMagnetic Resonance ImagingMaleMutationNAV1.7 Voltage-Gated Sodium ChannelPain MeasurementRegression AnalysisSensory Receptor CellsConceptsMean episode durationDRG neuronsPatient 1Nav1.7 mutationEpisode durationDorsal root ganglion neuronsPlacebo-controlled studyMaintenance periodAttenuation of painEffects of carbamazepineBrain activityFunctional magnetic resonance imagingMagnetic resonance imagingT mutationMutant channelsFunctional magnetic resonanceNeuropathic painSecondary somatosensoryChronic painPain areaPatient 2Ganglion neuronsEffective pharmacotherapyNight awakeningsPlacebo
2007
A case of inherited erythromelalgia
Novella SP, Hisama FM, Dib-Hajj SD, Waxman SG. A case of inherited erythromelalgia. Nature Reviews Neurology 2007, 3: 229-234. PMID: 17410110, DOI: 10.1038/ncpneuro0425.Peer-Reviewed Original ResearchConceptsLaboratory blood testingMRI brain scansNeuropathic painSymptomatic managementNeurological examinationRecurrent episodesBlood testingMedical historySkin biopsiesFamily historyDistal extremitiesBrain scansSimilar symptomsGenetic counselingEarly childhoodPainEpisodesErythromelalgiaBiopsyErythemaSymptomsExtremitiesDNA analysis
1993
Painless aortic dissection presenting as a progressive myelopathy
Holloway S, Fayad P, Kalb R, Guarnaccia J, Waxman S. Painless aortic dissection presenting as a progressive myelopathy. Journal Of The Neurological Sciences 1993, 120: 141-144. PMID: 8138802, DOI: 10.1016/0022-510x(93)90265-z.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAortic Aneurysm, ThoracicAortic DissectionFemaleHumansMagnetic Resonance ImagingMuscular DiseasesConceptsPainless aortic dissectionAortic dissectionProgressive myelopathyCentral nervous system ischemiaSpinal cord syndromeThoracic aortic dissectionAbsence of painThoracic vertebral bodyMagnetic resonance imagingTransverse myelopathyCord syndromeNeurologic deficitsNeurologic symptomsIschemic changesEarly recognitionSpinal cordDifferential diagnosisNew therapiesVertebral bodyResonance imagingMyelopathyThoracic vertebraeDissectionPainIschemia
1990
Emotional facial paresis with striatocapsular infarction
Trosch R, Sze G, Brass L, Waxman S. Emotional facial paresis with striatocapsular infarction. Journal Of The Neurological Sciences 1990, 98: 195-201. PMID: 2243229, DOI: 10.1016/0022-510x(90)90260-t.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBrainCerebral InfarctionCorpus StriatumEmotionsFacial MusclesFacial ParalysisHumansMagnetic Resonance ImagingMaleMovementNeurologic ExaminationVolition
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