Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy
Faber CG, Hoeijmakers JG, Ahn H, Cheng X, Han C, Choi J, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib‐Hajj S, Drenth JP, Waxman SG, Merkies IS. Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy. Annals Of Neurology 2011, 71: 26-39. PMID: 21698661, DOI: 10.1002/ana.22485.Peer-Reviewed Original ResearchConceptsSmall nerve fibre neuropathyIntraepidermal nerve fiber densityQuantitative sensory testingSmall-diameter peripheral axonsDorsal root ganglion neuronsGanglion neuronsPeripheral axonsSodium channelsAbnormal intraepidermal nerve fibre densityAbnormal quantitative sensory testingIdiopathic small fiber neuropathyFunction Nav1.7 mutationsNerve conduction studiesNerve fiber densitySmall fiber neuropathyVoltage-gated sodium channelsRare genetic syndromeExpression of gainTendon reflexesConduction studiesNav1.7 mutationUnderlying etiologyVibration senseSensory testingPatients