2021
KCNQ variants and pain modulation: a missense variant in Kv7.3 contributes to pain resilience
Yuan JH, Estacion M, Mis MA, Tanaka BS, Schulman BR, Chen L, Liu S, Dib-Hajj FB, Dib-Hajj SD, Waxman SG. KCNQ variants and pain modulation: a missense variant in Kv7.3 contributes to pain resilience. Brain Communications 2021, 3: fcab212-. PMID: 34557669, PMCID: PMC8454204, DOI: 10.1093/braincomms/fcab212.Peer-Reviewed Original ResearchPluripotent stem cell-derived sensory neuronsNav1.7 mutationSensory neuronsPain ProfilePain phenotypesPain resilienceDorsal root ganglion neuronsDaily pain diaryPeripheral sensory neuronsMissense variantsVoltage-clamp recordingsSodium channel Nav1.7Different pain experiencesPotential genetic factorsWhole-exome sequencingLarger M-currentsErythromelalgia patientsNeuropathic painPain episodesModerate painPain diaryPain modulationSevere painInter-individual variabilityGanglion neurons
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