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Article

Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.

The American journal of cardiology - 1 Feb 2005

Christiansen Michael, Tønder Niels, Larsen Lars A, Andersen Paal S, Simonsen Henrik, Oyen Nina, Kanters Jørgen K, Jacobsen Joes R, Fosdal Inger, Wettrell Gøran, Kjeldsen Keld

Abstract excerpt

In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with cong...

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Source

Identifiers

PMID: 15670565
DOI: 10.1016/j.amjcard.2004.09.054

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15670565-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.PMID 15670565Read ↗

Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERGSemantic proximity Read ↗

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Cardiac potassium channel dysfunction in sudden infant death syndrome.Semantic proximity Read ↗

Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.Semantic proximity Read ↗

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.Semantic proximity Read ↗

KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.Semantic proximity Read ↗

A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2.Semantic proximity Read ↗

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New PatientsSemantic proximity Read ↗

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Neonatal long QT syndrome due to a de novo dominant negative hERG mutation.Semantic proximity Read ↗

Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench.Semantic proximity Read ↗

A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.Semantic proximity Read ↗

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