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
2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain
Huang J, Estacion M, Zhao P, Dib-Hajj FB, Schulman B, Abicht A, Kurth I, Brockmann K, Waxman SG, Dib-Hajj SD. A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain. Frontiers In Neuroscience 2019, 13: 918. PMID: 31551682, PMCID: PMC6733892, DOI: 10.3389/fnins.2019.00918.Peer-Reviewed Original ResearchDorsal root gangliaDRG neuronsEpisodic painVoltage-gated sodium channel Nav1.9Episodic abdominal painLarger window currentSmall DRG neuronsTrigeminal ganglion neuronsCurrent-clamp recordingsAction potential firingHuman pain disordersVoltage-clamp recordingsChronic constipationAbdominal painMyenteric neuronsPain disordersGanglion neuronsPain phenotypesRoot gangliaCommon painNav1.9PainAction potentialsWindow currentPhenotypic spectrum
2018
Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp
Mis MA, Yang Y, Tanaka BS, Gomis-Perez C, Liu S, Dib-Hajj F, Adi T, Garcia-Milian R, Schulman BR, Dib-Hajj SD, Waxman SG. Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp. Journal Of Neuroscience 2018, 39: 382-392. PMID: 30459225, PMCID: PMC6335750, DOI: 10.1523/jneurosci.2433-18.2018.Peer-Reviewed Original ResearchMeSH KeywordsAdultChildChronic PainErythromelalgiaExcitatory Postsynaptic PotentialsExomeFemaleGanglia, SpinalHumansImmunohistochemistryIndividualityInduced Pluripotent Stem CellsKCNQ Potassium ChannelsMaleMembrane PotentialsNAV1.7 Voltage-Gated Sodium ChannelPain MeasurementPatch-Clamp TechniquesResilience, PsychologicalSensory Receptor CellsConceptsWhole-exome sequencingPeripheral sensory neuronsSensory neuronsSpecific gene variantsGene variantsPluripotent stem cell-derived sensory neuronsInterindividual differencesDorsal root ganglion neuronsExome sequencingDifferent pain profilesDRG neuron excitabilityDynamic clampPeripheral nervous systemStem cellsPain ProfilePluripotent stem cellsChronic painPeripheral mechanismsGanglion neuronsNeuron excitabilityPainNervous systemHuman genetic modelsNeuronsDifferent gene variantsBrain activity associated with pain in inherited erythromelalgia: stimulus-free pain engages brain areas involved in valuation and learning
Geha P, Schulman BR, Dib-Hajj SD, Waxman SG. Brain activity associated with pain in inherited erythromelalgia: stimulus-free pain engages brain areas involved in valuation and learning. Neurobiology Of Pain 2018, 3: 8-14. PMID: 31080911, PMCID: PMC6505710, DOI: 10.1016/j.ynpai.2018.01.002.Peer-Reviewed Original ResearchSupplementary motor areaMotor areaBrain areasPrefrontal cortexChronic pain disordersChronic pain conditionsRostral anterior cingulate cortexSodium channel Nav1.7Anterior cingulate cortexMedial prefrontal cortexSuperior parietal lobuleVentro-medial prefrontal cortexAcute painSevere painPain conditionsPain disordersFunctional brain imagingMotor cortexFrontal cortexPainThermal heat painChannel Nav1.7Cingulate cortexVentral striatumParietal lobule