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Article

Pacemaker channel dysfunction in a patient with sinus node disease.

The Journal of clinical investigation - 1 May 2003

Schulze-Bahr Eric, Neu Axel, Friederich Patrick, Kaupp U Benjamin, Breithardt Günter, Pongs Olaf, Isbrandt Dirk

Abstract excerpt

The cardiac pacemaker current I(f) is a major determinant of diastolic depolarization in sinus nodal cells and has a key role in heartbeat generation. Therefore, we hypothesized that some forms of "idiopathic" sinus node dysfunction (SND) are related to inherited dysfunctions of cardiac pacemaker ion channels. In a candidate gene approach, a heterozygous 1-bp deletion (1631delC) in exon 5 of the human HCN4 gene...

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Share to Atrial Fibrillation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide-Gated Cation Channels

Share to Electrophysiologic Techniques, Cardiac

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Share to Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels

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Source

Open in PubMed Open full text

Identifiers

PMID: 12750403
DOI: 10.1172/JCI16387
PMCID: PMC155041

Genes

HCN4

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pacemaker channel dysfunction in a patient with sinus node disease.PMID 12750403Read ↗

Pacemaker channel dysfunction in a patient with sinus node diseaseSemantic proximity Read ↗

Functional Characterization of a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac ArrhythmiaSemantic proximity Read ↗

Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting Synthesis, Trafficking, and Functional Expression Is Associated With Familial Asymptomatic Sinus BradycardiaSemantic proximity Read ↗

The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel.Semantic proximity Read ↗

cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control.Semantic proximity Read ↗

The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect.Semantic proximity Read ↗

Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.Semantic proximity Read ↗

The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.Semantic proximity Read ↗

A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish familySemantic proximity Read ↗

A rare gain of function HCN4 gene mutation is responsible for inappropriate sinus tachycardia in a Spanish familySemantic proximity Read ↗

Pacemaker activity of the human sinoatrial node: effects of HCN4 mutations on the hyperpolarization-activated current.Semantic proximity Read ↗

A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus TachycardiaSemantic proximity Read ↗

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