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Article

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Neuron - 1 May 1992

Ptácek L J, George A L, Barchi R L, Griggs R C, Riggs J E, Robertson M, Leppert M F

Abstract excerpt

The periodic paralyses are a group of autosomal dominant muscle diseases sharing a common feature of episodic paralysis. In one form, paramyotonia congenita (PC), the paralysis usually occurs with muscle cooling. Electrophysiologic studies of muscle from PC patients have revealed temperature-dependent alterations in sodium channel (NaCh) function. This observation led to demonstration of genetic linkage of a...

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PMID: 1316765
DOI: 10.1016/0896-6273(92)90203-p

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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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Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.PMID 1316765Read ↗

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A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.Semantic proximity Read ↗

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Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.Semantic proximity Read ↗

Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.Semantic proximity Read ↗

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.Semantic proximity Read ↗

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.Semantic proximity Read ↗

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.Semantic proximity Read ↗

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