Ontology highlight
ABSTRACT:
SUBMITTER: Schulze-Bahr E
PROVIDER: S-EPMC155041 | biostudies-literature | 2003 May
REPOSITORIES: biostudies-literature
Schulze-Bahr Eric E Neu Axel A Friederich Patrick P Kaupp U Benjamin UB Breithardt Günter G Pongs Olaf O Isbrandt Dirk D
The Journal of clinical investigation 20030501 10
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 was detected in a patient with idiopathic SND. The mutant HCN4 protein (HCN4-573X) ha ...[more]