2014
Paroxysmal itch caused by gain-of-function Nav1.7 mutation
Devigili G, Eleopra R, Pierro T, Lombardi R, Rinaldo S, Lettieri C, Faber C, Merkies I, Waxman S, Lauria G. Paroxysmal itch caused by gain-of-function Nav1.7 mutation. Pain 2014, 155: 1702-1707. PMID: 24820863, DOI: 10.1016/j.pain.2014.05.006.Peer-Reviewed Original ResearchConceptsIntraepidermal nerve fiber densityNerve fiber densityFiber densityAutonomic cardiovascular reflexesFunction Nav1.7 mutationsNerve conduction studiesManifestations of allergyQuantitative sensory testingParadoxical heat sensationProfile assessmentConsequence of diseaseNav1.7 sodium channelCardiovascular reflexesPregabalin treatmentAutonomic testsConduction studiesNav1.7 mutationPain thresholdClinical pictureSystemic diseaseSomatosensory pathwaysSkin biopsiesIndex patientsSensory testingSpicy foods
2012
Genetic aspects of sodium channelopathy in small fiber neuropathy
Hoeijmakers J, Merkies I, Gerrits M, Waxman S, Faber C. Genetic aspects of sodium channelopathy in small fiber neuropathy. Clinical Genetics 2012, 82: 351-358. PMID: 22803682, DOI: 10.1111/j.1399-0004.2012.01937.x.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyEtiology of SFNSmall-diameter peripheral axonsIntraepidermal nerve fiber densityDorsal root ganglion neuronsAbnormal thermal thresholdsNerve fiber densityQuantitative sensory testingUnmyelinated C-fibersSFN patientsAutonomic dysfunctionNeuropathic painAδ fibersGanglion neuronsC-fibersPeripheral axonsSensory testingSpecific treatmentSodium channelopathiesApparent causeFiber densitySodium channelsLogical targetNeuropathyPain