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