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Article

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

Human molecular genetics - 15 Apr 2007

Bendahhou Saïd, Fournier Emmanuel, Gallet Serge, Ménard Dominique, Larroque Marie-Madeleine, Barhanin Jacques

Abstract excerpt

Periodic paralysis, cardiac arrhythmia and bone features are the hallmark of Andersen's syndrome (AS), a rare disorder caused by mutations in the KCNJ2 gene that encodes for the inward rectifier K(+)-channel Kir2.1. Rest following strenuous physical activity, carbohydrate ingestion, emotional str...

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Source

Identifiers

PMID: 17324964
DOI: 10.1093/hmg/ddm034

Genes

KCNJ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17324964-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.PMID 17324964Read ↗

Management and treatment of Andersen-Tawil syndrome (ATS).Semantic proximity Read ↗

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

[A new type of periodic paralysis: Andersen-Tawil syndrome].Semantic proximity Read ↗

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

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.Semantic proximity Read ↗

Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.Semantic proximity Read ↗

Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.Semantic proximity Read ↗

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.Semantic proximity Read ↗

Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy.Semantic proximity Read ↗

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

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.Semantic proximity Read ↗

CBG Santiago: a novel CBG mutation.Semantic proximity Read ↗

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