Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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....

Topics

Adult
Cell Line
Child
Chromosome Mapping
Chromosomes, Human, Pair 17
DNA
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Hyperkalemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lod Score

Male

Paralyses, Familial Periodic

Pedigree

Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 1651050
PMCID: PMC1683285

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1651050-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

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 ↗

⌁Select a neighboring publication to make it the new centre.