2024
Small fiber neuropathy
Kool D, Hoeijmakers J, Waxman S, Faber C. Small fiber neuropathy. International Review Of Neurobiology 2024, 179: 181-231. PMID: 39580213, DOI: 10.1016/bs.irn.2024.10.001.Peer-Reviewed Original ResearchSmall fiber neuropathySodium channelopathiesAssociated with small fiber neuropathyTherapeutic strategiesNerve fibersNeuropathic pain disordersQuantitative sensory testingUnmyelinated C-fibersNervous systemSmall nerve fibersDiagnostic methodsPeripheral nervous systemAutonomic nervous systemNeuropathic painFiber neuropathyPain disordersClinical presentationC-fibersImmune-mediatedAutonomic dysfunctionClinical featuresSkin biopsiesDiagnosed patientsClinical trialsHereditary condition
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
2007
Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype
Waxman SG. Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype. Nature Neuroscience 2007, 10: 405-409. PMID: 17387329, DOI: 10.1038/nn1857.Peer-Reviewed Original ResearchConceptsSodium channel functionClinical manifestationsClinical statusNeuronal functionChannel functionPositive clinical manifestationsSodium channelsIon channel mutationsNegative clinical manifestationsNeuronal hyperexcitabilityNeuronal hypoexcitabilityNeuronal activityClinical functionNervous systemSodium channelopathiesChannelopathiesChannel mutationsManifestationsCell backgroundPhysiological propertiesStatusHyperexcitabilityHypoexcitabilitySeizuresParalysis