2016
A Gain-of-Function Mutation in Nav1.6 in a Case of Trigeminal Neuralgia
Tanaka BS, Zhao P, Dib-Hajj FB, Morisset V, Tate S, Waxman SG, Dib-Hajj SD. A Gain-of-Function Mutation in Nav1.6 in a Case of Trigeminal Neuralgia. Molecular Medicine 2016, 22: 338-348. PMID: 27496104, PMCID: PMC5023517, DOI: 10.2119/molmed.2016.00131.Peer-Reviewed Original ResearchUnilateral facial painTrigeminal neuralgiaCentral nervous systemFacial painPain disordersTrigeminal nervePeripheral voltage-gated sodium channelsPhase 2 clinical studyWhole-cell voltage-clamp recordingsPeripheral nervous system neuronsDiagnosis of TNFunction mutationsIdiopathic trigeminal neuralgiaTrigeminal ganglion neuronsCurrent-clamp studiesResurgent sodium currentsHuman pain disordersHigh-frequency firingVoltage-clamp recordingsDe novo missense mutationsVoltage-gated sodium channelsMagnetic resonance imagingHigh-firing neuronsNovo missense mutationVascular compression
2013
Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons
Huang J, Yang Y, Zhao P, Gerrits MM, Hoeijmakers JG, Bekelaar K, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG. Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons. Journal Of Neuroscience 2013, 33: 14087-14097. PMID: 23986244, PMCID: PMC6618513, DOI: 10.1523/jneurosci.2710-13.2013.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAmino Acid SequenceAnimalsCells, CulturedGanglia, SpinalHumansIon Channel GatingMaleMembrane PotentialsMiceMice, TransgenicMiddle AgedMolecular Sequence DataMutation, MissenseNAV1.8 Voltage-Gated Sodium ChannelNeuronsPeripheral Nervous System DiseasesRatsRats, Sprague-DawleyConceptsDorsal root ganglion neuronsSmall DRG neuronsDRG neuronsGanglion neuronsAction potentialsIdiopathic small fiber neuropathySmall-diameter DRG neuronsWhole-cell voltage-clamp recordingsSmall-caliber nerve fibersVoltage-gated sodium channel Nav1.7Peripheral sensory neuronsCurrent-clamp studiesLimited treatment optionsSmall fiber neuropathySodium channel Nav1.8Voltage-clamp recordingsSodium channel Nav1.7Autonomic dysfunctionIncreases excitabilityTreatment optionsUnknown etiologyFunctional variantsNerve fibersSensory neuronsRamp depolarization