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Article

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis.

Neuron - 1 Apr 1993

Cummins T R, Zhou J, Sigworth F J, Ukomadu C, Stephan M, Ptácek L J, Agnew W S

Abstract excerpt

Hyperkalemic periodic paralysis (HYPP), one of several inheritable myotonic diseases, results from genetic defects in the human skeletal muscle Na+ channel. In some pedigrees, HYPP is correlated with a single base pair substitution resulting in a Met replacing Thr704 in the fifth transmembrane segment of the second domain. This region is totally conserved between the human and rat channels. We have introduced the...

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PMID: 8386527
DOI: 10.1016/0896-6273(93)90168-q

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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