2022
Clinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia
Bower AS, Fisayo A, Baehring JM, Roy B. Clinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia. Neurology 2022, 98: 767-772. PMID: 35264421, DOI: 10.1212/wnl.0000000000200347.Peer-Reviewed Original ResearchConceptsEMG findingsHorizontal diplopiaHorizontal binocular diplopiaPeripheral nerve hyperexcitabilitySodium channel inhibitorsImpaired abductionTongue fasciculationsTransient dysarthriaElectrodiagnostic studiesTongue deviationSymptomatic reliefClinical presentationNerve hyperexcitabilityNeurologic examinationElectrographic seizuresRight eyeBinocular diplopiaInflammatory conditionsSymptom frequencyOlder womenTransient episodesAdditional episodesMyokymiaSpontaneous depolarizationsChannel inhibitors
2006
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 2006, 8: 131-135. PMID: 17136396, PMCID: PMC1820748, DOI: 10.1007/s10048-006-0071-z.Peer-Reviewed Original ResearchConceptsEpisodic ataxiaAdditional clinical featuresAbsence of epilepsyPotassium channel mutationsVoltage-gated potassium channelsPotassium channel gene KCNA1Febrile illnessCerebral palsyClinical featuresExtensor plantarsNonconservative missense mutationElectrophysiological studiesVermiform movementsKv1.1 subunitsLoss of functionMotor delayMyokymiaAutosomal dominant traitPotassium channelsChannel mutationsNovel c.AtaxiaMutation analysisMissense mutationsMutant cRNA
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