ArticleInternational journal of legal medicine2015
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.
Article in International journal of legal medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 48 citations in OpenAlex.
- Unraveling SUDEP: Mechanisms of Seizure-Induced Cardiac and Respiratory Impairment.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
- Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death.Journal of translational medicine · 2025Article
- Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.Frontiers in neurology · 2024Article
- Gene mutations in comorbidity of epilepsy and arrhythmia.Journal of neurology · 2023Review
- The ERG1 KFrontiers in molecular neuroscience · 2022Review
- Regulation of microRNA Expression in Sleep Disorders in Patients with Epilepsy.International journal of molecular sciences · 2021Review
- Towards a Treatment for Neuroinflammation in Epilepsy: Interleukin-1 Receptor Antagonist, Anakinra, as a Potential Treatment in Intractable Epilepsy.International journal of molecular sciences · 2021Review
- Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings.Diagnostics (Basel, Switzerland) · 2021Article
- Postmortem CT and autopsy findings in nine victims of terrorist attack.International journal of legal medicine · 2021Article
- Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.Journal of personalized medicine · 2021Article
- Article
- Gut Bacterial Dysbiosis in Children with Intractable Epilepsy.Journal of clinical medicine · 2020Article
- Febrile Seizures and Respiratory Viruses Determined by Multiplex Polymerase Chain Reaction Test and Clinical Diagnosis.Children (Basel, Switzerland) · 2020Article
- Are errors in otorhinolaryngology always a sign of medical malpractice? Review of the literature and new perspectives in the SARS-CoV-2 (COVID-19) era.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2020Review
- KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report.Frontiers in neurology · 2020Article
- Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?Frontiers in neurology · 2020Article
- National Association of Medical Examiners Position Paper: Recommendations for the Investigation and Certification of Deaths in People with Epilepsy.Academic forensic pathology · 2018Review
- Review
Corrections and comments
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Authors and funding
21 authors at 15 institutions in 2 countries.
Funding
Abstract
Epilepsy affects approximately 3% of the world's population, and sudden death is a significant cause of death in this population. Sudden unexpected death in epilepsy (SUDEP) accounts for up to 17% of all these cases, which increases the rate of sudden death by 24-fold as compared to the general population. The underlying mechanisms are still not elucidated, but recent studies suggest the possibility that a common genetic channelopathy might contribute to both epilepsy and cardiac disease to increase the incidence of death via a lethal cardiac arrhythmia. We performed genetic testing in a large cohort of individuals with epilepsy and cardiac conduction disorders in order to identify genetic mutations that could play a role in the mechanism of sudden death. Putative pathogenic disease-causing mutations in genes encoding cardiac ion channel were detected in 24% of unrelated individuals with epilepsy. Segregation analysis through genetic screening of the available family members and functional studies are crucial tasks to understand and to prove the possible pathogenicity of the variant, but in our cohort, only two families were available. Despite further research should be performed to clarify the mechanism of coexistence of both clinical conditions, genetic analysis, applied also in post-mortem setting, could be very useful to identify genetic factors that predispose epileptic patients to sudden death, helping to prevent sudden death in patients with epilepsy.
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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.