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
2005
Chapter 19 Transcriptional Channelopathies of the Nervous System New Targets for Molecular Medicine
Waxman S. Chapter 19 Transcriptional Channelopathies of the Nervous System New Targets for Molecular Medicine. 2005, 319-338. DOI: 10.1016/b978-012738903-5/50020-5.Peer-Reviewed Original ResearchTranscriptional channelopathiesIon channel genesChannel genesUnique amino acid sequenceAmino acid sequenceVoltage-gated sodium channelsGene productsAcid sequenceNew therapeutic opportunitiesProtein structureGenesTranscriptionNeuronal functionMolecular targetsMolecular medicineChannel transcriptionNew targetsNew therapeutic strategiesTherapeutic opportunitiesSodium channelsSpecific targetingComplete understandingChannelopathiesTherapeutic strategiesNervous system