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Article

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Neurology - 11 Oct 2005

Davies N P, Imbrici P, Fialho D, Herd C, Bilsland L G, Weber A, Mueller R, Hilton-Jones D, Ealing J, Boothman B R, Giunti P, Parsons L M, Thomas M, Manzur A Y, Jurkat-Rott K, Lehmann-Horn F, Chinnery P F, Rose M, Kullmann D M, Hanna M G

Abstract excerpt

OBJECTIVE: To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom. METHODS: Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2. Control samples were screened by direct DNA...

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Source

Identifiers

PMID: 16217063
DOI: 10.1212/01.wnl.0000178888.03767.74

Genes

KCNJ2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.PMID 16217063Read ↗

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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.Semantic proximity Read ↗

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.Semantic proximity Read ↗

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.Semantic proximity Read ↗

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

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Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.Semantic proximity Read ↗

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.Semantic proximity Read ↗

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.Semantic proximity Read ↗

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