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Article

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.

Circulation - 4 Jun 2002

Ai Tomohiko, Fujiwara Yuichiro, Tsuji Keiko, Otani Hideo, Nakano Shozo, Kubo Yoshihiro, Horie Minoru

Abstract excerpt

BACKGROUND: Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features. METHODS AND RESULTS: In 3 Japanese family members with periodic paralysis, ventricular arrhythmias, and marked QT prolongation, polymerase chain reaction/single-strand conformation...

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Source

Identifiers

PMID: 12045162
DOI: 10.1161/01.cir.0000019906.35135.a3

Genes

KCNJ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.PMID 12045162Read ↗

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