ArticleThe Journal of clinical investigation2013
Sudden unexpected death in a mouse model of Dravet syndrome.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 1 of them a synthesis that pooled it.
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Who cites it
169 citing papers in PubMed, 1 synthesis or guideline pooled 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
- Severe acute respiratory distress syndrome in Dravet syndrome: Clinical cases expanding the extraneurological phenotype.Epilepsy & behavior reports · 2026Article
- Brainstem Disinhibition Destabilizes Breathing in Dravet Syndrome, Leading to Sudden Unexpected Death in Epilepsy (SUDEP).Epilepsy currents · 2026Article
- AAV9-mediated targeting of natural antisense transcript as a novel treatment for Dravet syndrome.Molecular therapy. Nucleic acids · 2026Article
- Chronic Stress Alters Dorsal Bed Nucleus of Stria Terminalis Synaptic Neurotransmission in a Dravet Syndrome Mouse Model.bioRxiv : the preprint server for biology · 2026Article
- Inflammation modifies breathing phenotype in mice with epilepsy.Journal of neuroinflammation · 2026Article
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Bradycardia is induced by hyperactivity of the vagus nerve and nucleus ambiguus during seizures propagating into the brainstem.Epilepsia open · 2025Article
- A companion to the development of common data elements for Sudden Unexpected Death in Epilepsy (SUDEP).Epilepsia open · 2025Article
- Enhancing sudden unexpected death in epilepsy (SUDEP) research through development of common data elements.Epilepsia open · 2025Article
- Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges.Epilepsia open · 2025Review
- The Crucial Interplay Between the Lungs, Brain, and Heart to Understand Epilepsy-Linked SUDEP: A Literature Review.Brain sciences · 2025Review
- Differential roles of NaeLife · 2025Article
- Sudden unexpected death in epilepsy: respiratory vs. cardiac contributions.Cardiovascular research · 2025Review
- Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.Translational psychiatry · 2025Review
- Early mortality in STXBP1-related disorders.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Article
- Sudden Unexpected Death in Epilepsy: Central Respiratory Chemoreception.International journal of molecular sciences · 2025Review
- Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism.eLife · 2025Article
- Scn1a haploinsufficiency in the prefrontal cortex leads to cognitive impairment and depressive phenotype.Brain : a journal of neurology · 2024Article
109 more citing papers are in PubMed but not listed here.
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7 authors.
Funding
Abstract
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in intractable epilepsies, but physiological mechanisms that lead to SUDEP are unknown. Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes brain type-I voltage-gated sodium channel NaV1.1. We studied the mechanism of premature death in Scn1a heterozygous KO mice and conditional brain- and cardiac-specific KOs. Video monitoring demonstrated that SUDEP occurred immediately following generalized tonic-clonic seizures. A history of multiple seizures was a strong risk factor for SUDEP. Combined video-electroencephalography-electrocardiography revealed suppressed interictal resting heart-rate variability and episodes of ictal bradycardia associated with the tonic phases of generalized tonic-clonic seizures. Prolonged atropine-sensitive ictal bradycardia preceded SUDEP. Similar studies in conditional KO mice demonstrated that brain, but not cardiac, KO of Scn1a produced cardiac and SUDEP phenotypes similar to those found in DS mice. Atropine or N-methyl scopolamine treatment reduced the incidence of ictal bradycardia and SUDEP in DS mice. These findings suggest that SUDEP is caused by apparent parasympathetic hyperactivity immediately following tonic-clonic seizures in DS mice, which leads to lethal bradycardia and electrical dysfunction of the ventricle. These results have important implications for prevention of SUDEP in DS patients.
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