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

doi:10.1002/ana.410300610

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Article

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

Annals of neurology - 1 Dec 1991

Ebers G C, George A L, Barchi R L, Ting-Passador S S, Kallen R G, Lathrop G M, Beckmann J S, Hahn A F, Brown W F, Campbell R D

Abstract excerpt

The hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others,...

Topics

Adult
Chromosomes, Human, Pair 17
Female
Genes
Humans
Hyperkalemia
Lod Score
Male
Muscle Proteins
Muscles
Myotonia Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paralyses, Familial Periodic

Pedigree

Phenotype

Polymorphism, Restriction Fragment Length

Sodium Channels

Tetrodotoxin

Source

Open in PubMed

Identifiers

PMID: 1686388
DOI: 10.1002/ana.410300610

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1686388-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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