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
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery
Yuan JH, Schulman BR, Effraim PR, Sulayman DH, Jacobs DS, Waxman SG. Genomic analysis of 21 patients with corneal neuralgia after refractive surgery. PAIN Reports 2020, 5: e826. PMID: 32766464, PMCID: PMC7390595, DOI: 10.1097/pr9.0000000000000826.Peer-Reviewed Original ResearchCorneal neuralgiaRefractive surgeryWhole-exome sequencingSmall fiber neuropathySmall patient cohortSubgroup of casesIntractable painPersistent painPatient cohortPhotorefractive keratectomyObscure etiologySitu keratomileusisSurgeryNeuralgiaGenetic factorsMissense variantsExome databasesPainFurther studiesUnrelated familiesPatientsPathogenesisGene-based association testsIon channelsGenes/variants
2016
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile
McDonnell A, Schulman B, Ali Z, Dib-Hajj SD, Brock F, Cobain S, Mainka T, Vollert J, Tarabar S, Waxman SG. Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. Brain 2016, 139: 1052-1065. PMID: 26920677, DOI: 10.1093/brain/aww007.Peer-Reviewed Original ResearchConceptsPain attacksQuantitative sensory testingDepression Scale scoresHospital AnxietySomatosensory profilesPain phenotypesOlfaction testingClinical characterizationSensory testingScale scoreNatural historyDepression Scale depression scoreDepth clinical characterizationSodium channelsSeverity of painPattern of painSmall fiber neuropathyTotal Hospital AnxietyWeek observation periodVoltage-gated sodium channelsSame mutationHuman pain syndromesUnaffected sitesOrthostatic hypotensionPain syndrome
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