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Article

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

American journal of human genetics - 1 Aug 1991

Ptacek L J, Tyler F, Trimmer J S, Agnew W S, Leppert M

Abstract excerpt

Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we have demonstrated close genetic linkage between an NaCh gene and the HYPP locus in another family....

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Identifiers

PMID: 1651050
PMCID: PMC1683285

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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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Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.PMID 1651050Read ↗

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

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis.Semantic proximity Read ↗

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.Semantic proximity Read ↗

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

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.Semantic proximity Read ↗

Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene.Semantic proximity Read ↗

Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene.Semantic proximity Read ↗

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.Semantic proximity Read ↗

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.Semantic proximity Read ↗

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.Semantic proximity Read ↗

A global defect in scaling relationship between electrical activity and availability of muscle sodium channels in hyperkalemic periodic paralysis.Semantic proximity Read ↗

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