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Article

Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.

Annals of medicine - 1 Jan 2004

Donaldson Matthew R, Yoon Grace, Fu Ying-Hui, Ptacek Louis J

Abstract excerpt

Due to its varied and variable phenotypes, Andersen-Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severity are remarkably variable. Mutations in KCNJ2 are the primary cause of ATS with 21 mutations...

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Topics

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Share to Arrhythmias, Cardiac
Share to KCNJ2 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 15176430
DOI: 10.1080/17431380410032490

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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