ArticleScience translational medicine2009
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.
Article in Science translational medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 158 papers, 2 of them syntheses that pooled it.
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Who cites it
158 citing papers in PubMed, 2 syntheses or guidelines pooled it, 316 citations in OpenAlex.
- Electrocardiographic abnormalities in epilepsy: analysis of cardiac conduction patterns and SUDEP Risk.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.Journal of the American Heart Association · 2020Pooled it
- KCNQ1 disruption alters human neuronal development through mitochondrial and insulin signalling pathways.Communications biology · 2026Article
- Neurocardiology: Brain-Heart Interactions in the Heart.MedComm · 2026Review
- Sudden Unexpected Death in Epilepsy (SUDEP) and Cardiovascular Dysfunction - Unraveling the Link: A Narrative Review.Annals of Indian Academy of Neurology · 2026Article
- Discovery of Small-Molecule Inhibitors of the KCNQ1/Kv7.1 Potassium Channel with Virtual Screening and Functional Validation in Electrophysiological Assays and KCNQ1-Knockout Neural Stem Cells.ACS chemical neuroscience · 2026Article
- AES-NINDS Epilepsy Benchmarks Area IV: Comorbidities of Epilepsy - Where Are We and Where Will We Go?Epilepsy currents · 2026Article
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Mapping the knowledge of epilepsy and Potassium Channels: A scientometric analysis in CiteSpace and VOSviewer.IBRO neuroscience reports · 2025Article
- Different Causes of a Transient Loss of Consciousness with Convulsions between Two Young Sisters: Epilepsy and Type-2 Long QT Syndrome.Internal medicine (Tokyo, Japan) · 2025Article
- Low level of expression of known deafness genes Kcne1, Kcnj10 or Col4a3 is sufficient to maintain hearing in mice.Hearing research · 2025Article
- The Crucial Interplay Between the Lungs, Brain, and Heart to Understand Epilepsy-Linked SUDEP: A Literature Review.Brain sciences · 2025Review
- A novel link betweenBiomedical reports · 2025Article
- Sudden Unexpected Death in Epilepsy: A Narrative Review of Mechanism, Risks, and Prevention.Journal of clinical medicine · 2025Review
- KCNQ1 Polymorphism in the Context of Ischemic Cardiomyopathy: A Potential Key to Decision-Making for Device Implantation.Clinical cardiology · 2025Article
- Identifying Cardiovascular Risk by Nonlinear Heart Rate Dynamics Analysis: Translational Biomarker from Mice to Humans.Brain sciences · 2025Article
- Molecular and cellular neurocardiology in heart disease.The Journal of physiology · 2025Review
- Implantation of Electroencephalogram and Electrocardiogram Telemetry Devices in Neonatal Rabbit Kits.Journal of visualized experiments : JoVE · 2025Article
- Sudden Unexpected Death in Epilepsy: Central Respiratory Chemoreception.International journal of molecular sciences · 2025Review
- Exploring the Potential of Malvidin and Echiodinin as Probable Antileishmanial Agents Through In Silico Analysis and In Vitro Efficacy.Molecules (Basel, Switzerland) · 2025Article
98 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Sudden unexplained death is a catastrophic complication of human idiopathic epilepsy, causing up to 18% of patient deaths. A molecular mechanism and an identified therapy have remained elusive. Here, we find that epilepsy occurs in mouse lines bearing dominant human LQT1 mutations for the most common form of cardiac long QT syndrome, which causes syncopy and sudden death. KCNQ1 encodes the cardiac KvLQT1 delayed rectifier channel, which has not been previously found in the brain. We have shown that, in these mice, this channel is found in forebrain neuronal networks and brainstem nuclei, regions in which a defect in the ability of neurons to repolarize after an action potential, as would be caused by this mutation, can produce seizures and dysregulate autonomic control of the heart. That long QT syndrome mutations in KCNQ1 cause epilepsy reveals the dual arrhythmogenic potential of an ion channelopathy coexpressed in heart and brain and motivates a search for genetic diagnostic strategies to improve risk prediction and prevention of early mortality in persons with seizure disorders of unknown origin.
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