2014
Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels
Kim GE, Kronengold J, Barcia G, Quraishi IH, Martin HC, Blair E, Taylor JC, Dulac O, Colleaux L, Nabbout R, Kaczmarek LK. Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels. Cell Reports 2014, 9: 1661-1672. PMID: 25482562, PMCID: PMC4294418, DOI: 10.1016/j.celrep.2014.11.015.Peer-Reviewed Original Research
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