2023
Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons
Ghovanloo M, Effraim P, Yuan J, Schulman B, Jacobs D, Dib-Hajj S, Waxman S. Nav1.7 P610T mutation in two siblings with persistent ocular pain after corneal axon transection: impaired slow inactivation and hyperexcitable trigeminal neurons. Journal Of Neurophysiology 2023, 129: 609-618. PMID: 36722722, PMCID: PMC9988530, DOI: 10.1152/jn.00457.2022.Peer-Reviewed Original ResearchConceptsPersistent ocular painTrigeminal ganglion neuronsOcular painCorneal refractive surgeryGanglion neuronsRefractive surgeryAxonal injurySlow inactivationHuman pain modelTrigeminal afferent nervesTrigeminal ganglion axonsSmall subgroupPain-related disordersEffects of injurySodium channel Nav1.7Channel slow inactivationEye painPostoperative painMost patientsPain modelAfferent nervesPersistent painTrigeminal neuronsNav1.7 mutationAxon transection
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