Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile
McDonnell A, Schulman B, Ali Z, Dib-Hajj SD, Brock F, Cobain S, Mainka T, Vollert J, Tarabar S, Waxman SG. Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. Brain 2016, 139: 1052-1065. PMID: 26920677, DOI: 10.1093/brain/aww007.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedErythromelalgiaEvoked Potentials, SomatosensoryFemaleHumansMaleMiddle AgedMutationNAV1.7 Voltage-Gated Sodium ChannelPainPain MeasurementPhenotypeSurveys and QuestionnairesYoung AdultConceptsPain attacksQuantitative sensory testingDepression Scale scoresHospital AnxietySomatosensory profilesPain phenotypesOlfaction testingClinical characterizationSensory testingScale scoreNatural historyDepression Scale depression scoreDepth clinical characterizationSodium channelsSeverity of painPattern of painSmall fiber neuropathyTotal Hospital AnxietyWeek observation periodVoltage-gated sodium channelsSame mutationHuman pain syndromesUnaffected sitesOrthostatic hypotensionPain syndrome