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

doi:10.1016/0896-6273(93)90168-q

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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...

Topics

Amino Acid Sequence
Base Sequence
Cell Line, Transformed
Electrophysiology
Extracellular Space
Homeostasis
Humans
Hydrogen-Ion Concentration
Hyperkalemia
Kinetics
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Paralysis
Periodicity
Potassium
Sodium Channels

Source

Open in PubMed

Identifiers

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

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