Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
Cummins T, Zhou J, Sigworth F, Ukomadu C, Stephan M, Ptáčk L, Agnew W. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron 1993, 10: 667-678. PMID: 8386527, DOI: 10.1016/0896-6273(93)90168-q.Peer-Reviewed Original ResearchConceptsHyperkalemic periodic paralysisFifth transmembrane segmentHuman embryonic kidney 293 cellsSingle base pair substitutionsEmbryonic kidney 293 cellsKidney 293 cellsBase pair substitutionsTransmembrane segmentsHuman mutationsChannel cDNARat channelHuman skeletal muscleFunctional consequencesPair substitutionsSecond domainCorresponding regionChannel mutationsGenetic defectsMutationsSkeletal musclePeriodic paralysisPatch-clamp recordingsCDNARat musclePedigree