2021
A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy
Alsaloum M, Labau JIR, Sosniak D, Zhao P, Almomani R, Gerrits M, Hoeijmakers JGJ, Lauria G, Faber CG, Waxman SG, Dib-Hajj S. A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy. Journal Of Neurophysiology 2021, 126: 827-839. PMID: 34320850, PMCID: PMC8461825, DOI: 10.1152/jn.00184.2021.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathyVoltage-gated sodium channel α-subunitsDorsal root ganglion neuronsSodium channel β subunitsSodium channel α subunitDiscernible causeChannel α-subunitsGanglion neuronsChannel β subunitΒ2 subunitIdiopathic small fiber neuropathySodium currentTetrodotoxin-resistant sodium currentTetrodotoxin-sensitive sodium currentPainful diabetic neuropathySubset of patientsUnmyelinated C-fibersCurrent-clamp analysisAction potential firingHuman pain disordersFirst evidenceNeuropathic painDiabetic neuropathyNeuronal hyperexcitabilityPain disorders
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