2018
A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy
Adi T, Estacion M, Schulman BR, Vernino S, Dib-Hajj S, Waxman S. A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy. Molecular Pain 2018, 14: 1744806918815007. PMID: 30392441, PMCID: PMC6856981, DOI: 10.1177/1744806918815007.Peer-Reviewed Original ResearchConceptsPainful peripheral neuropathyDorsal root gangliaPeripheral neuropathyUse-dependent inhibitionDRG neuronsPain disordersM variantFunction Nav1.7 mutationsMulti-electrode array recordingsSympathetic ganglion neuronsCommon pain disordersVoltage-clamp recordingsVoltage-gated sodium channel NaRare MendelianNav1.7 mutationGanglion neuronsSodium channel NaTrigeminal ganglionRoot gangliaNeonatal ratsPatientsNeuropathyMutant channelsFunction variantsNeurons
2017
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav1.7 mutation I234T
Yang Y, Adi T, Effraim PR, Chen L, Dib‐Hajj S, Waxman SG. Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav1.7 mutation I234T. British Journal Of Pharmacology 2017, 175: 2261-2271. PMID: 28658526, PMCID: PMC5980548, DOI: 10.1111/bph.13935.Peer-Reviewed Original ResearchConceptsUse-dependent inhibitionSensory neuronsDorsal root ganglion sensory neuronsIntact sensory neuronsDRG sensory neuronsMulti-electrode array recordingsTreatment of painTargeting Ion ChannelsEffects of carbamazepineMutant channelsT mutationChronic painActivation of NaSodium channel variantsSection visitPainPharmacogenomic approachPharmacological analysisPatch clampPatientsNeuronsHigher firingCarbamazepineThemed sectionChannel variants