2015
Neurology—the next 10 years
Baron R, Ferriero D, Frisoni G, Bettegowda C, Gokaslan Z, Kessler J, Vezzani A, Waxman S, Jarius S, Wildemann B, Weller M. Neurology—the next 10 years. Nature Reviews Neurology 2015, 11: 658-664. PMID: 26503922, DOI: 10.1038/nrneurol.2015.196.Peer-Reviewed Original Research
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 ResearchMeSH KeywordsAnimalsChannelopathiesGenetic VariationHumansNAV1.7 Voltage-Gated Sodium ChannelNerve Fibers, UnmyelinatedPolyneuropathiesConceptsSmall 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 ResearchMeSH KeywordsAnimalsChannelopathiesGenotypeHumansIon Channel GatingModels, BiologicalMutationNeuronsPhenotypeSodium ChannelsConceptsSodium channel functionClinical manifestationsClinical statusNeuronal functionChannel functionPositive clinical manifestationsSodium channelsIon channel mutationsNegative clinical manifestationsNeuronal hyperexcitabilityNeuronal hypoexcitabilityNeuronal activityClinical functionNervous systemSodium channelopathiesChannelopathiesChannel mutationsManifestationsCell backgroundPhysiological propertiesStatusHyperexcitabilityHypoexcitabilitySeizuresParalysis