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
2023
Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
Yuan J, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib‐Hajj F, Dib‐Hajj S, Waxman S, Takashima H. Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders. Journal Of The Peripheral Nervous System 2023, 28: 597-607. PMID: 37555797, DOI: 10.1111/jns.12590.Peer-Reviewed Original ResearchConceptsParoxysmal extreme pain disorderPainful peripheral neuropathyPain disordersSCN9A mutationsPeripheral neuropathyNovel SCN9A mutationsVoltage-gated sodium channel Nav1.7Sodium channel Nav1.7Steady-state fast inactivationGene panel sequencingPatch-clamp analysisAutonomic neuropathyNeuropathic painSCN9A geneClinical featuresUnderlying pathogenesisPathological studiesPatientsChannel Nav1.7EM phenotypePhenotypic spectrumNeuropathyNav1.7 channelsPatch-clamp systemElectrophysiological analysis
2015
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans M, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels R, Meisler MH, Kamsteeg EJ. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. Journal Of Medical Genetics 2015, 52: 330. PMID: 25725044, PMCID: PMC4413743, DOI: 10.1136/jmedgenet-2014-102813.Peer-Reviewed Original ResearchConceptsClinical exome sequencingClinical featuresEarly-infantile epileptic encephalopathy type 13Intellectual disabilityVoltage-gated sodium channel Nav1.6De novo SCN8A mutationFunction mutationsExome sequencingSodium channel Nav1.6Variable clinical featuresGenotype-phenotype correlationSCN8A mutationsChannel Nav1.6Hyperpolarising shiftMutant sodium channelsPatientsDe novoHeterozygous lossSodium channelsElectrophysiological analysisClinical interpretationType 13DisabilitySeizuresWildtype channel