2015
Neurology—the next 10 years
Baron R, Ferriero D, Frisoni G, Bettegowda C, Gokaslan Z, Kessler J, Vezzani A, Waxman S, Jarius S, Wildemann B, Weller M. Neurology—the next 10 years. Nature Reviews Neurology 2015, 11: 658-664. PMID: 26503922, DOI: 10.1038/nrneurol.2015.196.Peer-Reviewed Original ResearchDe 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
2013
A new Nav1.7 mutation in an erythromelalgia patient
Estacion M, Yang Y, Dib-Hajj SD, Tyrrell L, Lin Z, Yang Y, Waxman SG. A new Nav1.7 mutation in an erythromelalgia patient. Biochemical And Biophysical Research Communications 2013, 432: 99-104. PMID: 23376079, DOI: 10.1016/j.bbrc.2013.01.079.Peer-Reviewed Original ResearchConceptsMutations of Nav1.7Voltage-gated sodium channel Nav1.7Year old patientSodium channel Nav1.7Voltage-clamp studiesErythromelalgia patientsOlder patientsDRG neuronsNav1.7 mutationPainful disordersFunction missense mutationsChannel Nav1.7Neuron firingPatientsRamp stimuliExon 20Channel biophysical propertiesControl allelesNav1.7Missense mutationsBiophysical propertiesMutations
1979
Ultrastructural and cytochemical observations in a case of dominantly inherited hypertrophic (Charcot-Marie-Tooth) neuropathy.
Waxman S, Ouellette E. Ultrastructural and cytochemical observations in a case of dominantly inherited hypertrophic (Charcot-Marie-Tooth) neuropathy. Journal Of Neuropathology & Experimental Neurology 1979, 38: 586-95. PMID: 533859, DOI: 10.1097/00005072-197911000-00003.Peer-Reviewed Original Research
1974
Hypergraphia in temporal lobe epilepsy.
WAXMAN S, GESCHWIND N. Hypergraphia in temporal lobe epilepsy. Neurology 1974, 24: 629-36. PMID: 4209727, DOI: 10.1212/wnl.24.7.629.Peer-Reviewed Original Research