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Article

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

Journal of human genetics - 1 Jan 2007

Choi Byung-Ok, Kim Joonki, Suh Bum Chun, Yu Jin Seok, Sunwoo Il Nam, Kim Song Ja, Kim Gwang Hoon, Chung Ki Wha

Abstract excerpt

Mutations of the KCNJ2 gene are a major underlying cause of Andersen-Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic features. The KCNJ2 gene encodes an inward rectifying K(+) channel protein, Kir2.1, which plays an important role in maintaining the homeostasis of channel current in various cell...

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Source

Identifiers

PMID: 17211524
DOI: 10.1007/s10038-006-0100-7

Genes

KCNJ2
PIP

Variants

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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Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.PMID 17211524Read ↗

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A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.Semantic proximity Read ↗

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

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.Semantic proximity Read ↗

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.Semantic proximity Read ↗

Andersen-Tawil syndrome: clinical and molecular aspects.Semantic proximity Read ↗

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.Semantic proximity Read ↗

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.Semantic proximity Read ↗

Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.Semantic proximity Read ↗

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.Semantic proximity Read ↗

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