ArticlePloS one2017
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
Article in PloS one, 2017. 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, 42 citations in OpenAlex.
- Sudden unexpected death in epilepsy (SUDEP): Risk management of pediatric patients with epilepsy.Epilepsia open · 2026Article
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.Translational psychiatry · 2025Review
- Brugada syndrome in the forensic field: what do we know to date?Frontiers in cardiovascular medicine · 2025Review
- Cardiac dysfunctions in children with drug-resistant epilepsy.Frontiers in neurology · 2024Article
- Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.Frontiers in neurology · 2024Article
- Sudden death in epilepsy: the overlap between cardiac and neurological factors.Brain communications · 2024Review
- Tracking updates in clinical databases increases efficiency for variant reanalysis.Genetics in medicine open · 2024Article
- Sudden unexpected death in epilepsy: A critical view of the literature.Epilepsia open · 2023Review
- De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP.Acta epileptologica · 2023Article
- Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.International journal of molecular sciences · 2023Article
- Gene mutations in comorbidity of epilepsy and arrhythmia.Journal of neurology · 2023Review
- Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.Biomedicines · 2022Review
- Unmasking of Brugada syndrome by lamotrigine in a patient with pre-existing epilepsy: A case report with review of the literature.Frontiers in cardiovascular medicine · 2022Article
- Autonomic manifestations of epilepsy: emerging pathways to sudden death?Nature reviews. Neurology · 2021Review
- The brain-heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention.Annals of clinical and translational neurology · 2021Review
- Article
- Involvement ofFrontiers in neurology · 2021Article
- Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.
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