ArticleJournal of molecular and cellular cardiology2008
Cardiac potassium channel dysfunction in sudden infant death syndrome.
Article in Journal of molecular and cellular cardiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 223 citations in OpenAlex.
- Sudden death-associated KCNH2 variants exert opposing effects on a nuclear subdomain of the cardiac potassium channel hERG1.The Journal of biological chemistry · 2026Article
- Sudden Death-AssociatedbioRxiv : the preprint server for biology · 2025Article
- Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IThe Journal of biological chemistry · 2023Article
- Article
- Functional significance of channelopathy gene variants in unexplained death.Forensic science, medicine, and pathology · 2019Review
- High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.Circulation. Genomic and precision medicine · 2018Article
- Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.Forensic science, medicine, and pathology · 2018Article
- Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.Pacing and clinical electrophysiology : PACE · 2017Article
- Age-dependent electrical and morphological remodeling of the Drosophila heart caused by hERG/seizure mutations.PLoS genetics · 2017Article
- Regulation of KCNQ/Kv7 family voltage-gated KBiochimica et biophysica acta. Biomembranes · 2017Review
- Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics.The Journal of general physiology · 2013Article
- Cardiac ion channelopathies and the sudden infant death syndrome.ISRN cardiology · 2012Article
- Electrophysiological study of V535M hERG mutation of LQT2.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2011Article
- Genomic risk factors in sudden infant death syndrome.Genome medicine · 2010Article
- A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.Circulation. Cardiovascular genetics · 2010Article
- Congenital short QT syndrome.Indian pacing and electrophysiology journal · 2010Article
- Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation.Journal of molecular and cellular cardiology · 2010Article
- Sudden infant death syndrome in mice with an inherited mutation in RyR2.Circulation. Arrhythmia and electrophysiology · 2009Article
- Sudden infant death syndrome: do ion channels play a role?Heart rhythm · 2009Review
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
Abstract
Life-threatening arrhythmias have been suspected as one cause of the sudden infant death syndrome (SIDS), and this hypothesis is supported by the observation that mutations in arrhythmia susceptibility genes occur in 5-10% of cases. However, the functional consequences of cardiac potassium channel gene mutations associated with SIDS and how these alleles might mechanistically predispose to sudden death are unknown. To address these questions, we studied four missense KCNH2 (encoding HERG) variants, one compound KCNH2 genotype, and a missense KCNQ1 mutation all previously identified in Norwegian SIDS cases. Three of the six variants exhibited functional impairments while three were biophysically similar to wild-type channels (KCNH2 variants V279M, R885C, and S1040G). When co-expressed with WT-HERG, R273Q and K897T/R954C generated currents resembling the rapid component of the cardiac delayed rectifier current (I(Kr)) but with significantly diminished amplitude. Action potential modeling demonstrated that this level of functional impairment was sufficient to evoke increased action potential duration and pause-dependent early afterdepolarizations. By contrast, KCNQ1-I274V causes a gain-of-function in I(Ks) characterized by increased current density, faster activation, and slower deactivation leading to accumulation of instantaneous current upon repeated stimulation. Action potential simulations using a Markov model of heterozygous I274V-I(Ks) incorporated into the Luo-Rudy (LRd) ventricular cell model demonstrated marked rate-dependent shortening of action potential duration predicting a short QT phenotype. Our results indicate that certain potassium channel mutations associated with SIDS confer overt functional defects consistent with either LQTS or SQTS, and further emphasize the role of congenital arrhythmia susceptibility in this syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.