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