2022
Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy
Ślęczkowska M, Almomani R, Marchi M, Salvi E, de Greef B, Sopacua M, Hoeijmakers J, Lindsey P, Waxman S, Lauria G, Faber C, Smeets H, Gerrits M. Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy. International Journal Of Molecular Sciences 2022, 23: 14095. PMID: 36430572, PMCID: PMC9696564, DOI: 10.3390/ijms232214095.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyNeuropathic painIon channel genesPainful small fiber neuropathyPain score VASPathogenic heterozygous variantGenetic variantsIon channelsCohort studyDiabetic neuropathySevere painDifferent etiologiesPainPatientsVoltage-gated sodium ion channelsHeterozygous variantsNeuropathySodium ion channelsGene screeningGeneration sequencingPrevious findingsSuch variantsEtiologySCN1BVariants
2019
A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy
Alsaloum M, Estacion M, Almomani R, Gerrits MM, Bönhof GJ, Ziegler D, Malik R, Ferdousi M, Lauria G, Merkies IS, Faber CG, Dib-Hajj S, Waxman S. A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy. Molecular Pain 2019, 15: 1744806919849802. PMID: 31041876, PMCID: PMC6510061, DOI: 10.1177/1744806919849802.Peer-Reviewed Original ResearchConceptsDiabetic peripheral neuropathyPeripheral neuropathyNeuropathic painDiabetic peripheral neuropathy patientsPainful diabetic peripheral neuropathyDorsal root ganglion neuronsPainful diabetic neuropathyPeripheral neuropathy patientsSodium channel β subunitsSpectrum of patientsUse-dependent inhibitionCardiac conducting systemSodium channel α subunitVoltage-gated sodium channelsChannel α-subunitsSCN11A geneDiabetic neuropathyDiabetes mellitusChronic painNeuropathy patientsGanglion neuronsNegative genetic screeningChannel β subunitHealth sequelaeRepetitive stimulation
1980
Pathophysiology of nerve conduction: relation to diabetic neuropathy.
WAXMAN S. Pathophysiology of nerve conduction: relation to diabetic neuropathy. Annals Of Internal Medicine 1980, 92: 297-301. PMID: 6243892, DOI: 10.7326/0003-4819-92-2-297.Peer-Reviewed Original ResearchConceptsTotal conduction blockProximal-distal gradientClinicopathologic aspectsDiabetic neuropathyClinical deficitsElectrophysiologic variablesNerve diseasePathophysiologic mechanismsNerve conductionConduction blockPathologic basisConduction velocityImpulse conductionTopographic patternsTemporal dispersionNeuropathyNerveDysfunctionPathophysiologyLesionsDisease