ArticleBrain pathology (Zurich, Switzerland)2017
Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.
Article in Brain pathology (Zurich, Switzerland), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- 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
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Article
- Sudden Unexpected Death in Epilepsy: Central Respiratory Chemoreception.International journal of molecular sciences · 2025Review
- Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024Review
- Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.Frontiers in neurology · 2024Article
- Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death.Journal of neurology · 2023Article
- ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.Human molecular genetics · 2023Article
- The analysis of SUDEP forensic autopsies leading to preventable events.Frontiers in neurology · 2023Article
- Stx4 is required to regulate cardiomyocyte CaHGG advances · 2022Article
- Significance of α-Myosin Heavy Chain (Journal of cardiovascular development and disease · 2022Article
- Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.Frontiers in cardiovascular medicine · 2022Review
- Pilot study evaluating everolimus molecular mechanisms in tuberous sclerosis complex and focal cortical dysplasia.PloS one · 2022Article
- The brain-heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention.Annals of clinical and translational neurology · 2021Review
- A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2019Article
- Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2019Article
- Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.Neurogenetics · 2019Article
- Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.BMC medical genetics · 2018Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited heart disease causing electric instability in the heart has been suggested to be a risk factor for sudden unexpected death in epilepsy (SUDEP). The purpose of this study was to reveal the correlation between epilepsy-related sudden unexpected death (SUD) and inherited heart disease. Twelve epilepsy-related SUD cases (seven males and five females, aged 11-78 years) were examined. Nine cases fulfilled the criteria of SUDEP, and three cases died by drowning. In addition to examining three major epilepsy-related genes, we used next-generation sequencing (NGS) to examine 73 inherited heart disease-related genes. We detected both known pathogenic variants and rare variants with minor allele frequencies of <0.5%. The pathogenicity of these variants was evaluated and graded by eight in silico predictive algorithms. Six known and six potential rare variants were detected. Among these, three known variants of LDB3, DSC2 and KCNE1 and three potential rare variants of MYH6, DSP and DSG2 were predicted by in silico analysis as possibly highly pathogenic in three of the nine SUDEP cases. Two of three cases with desmosome-related variants showed mild but possible significant right ventricular dysplasia-like pathology. A case with LDB3 and MYH6 variants showed hypertrabeculation of the left ventricle and severe fibrosis of the cardiac conduction system. In the three drowning death cases, one case with mild prolonged QT interval had two variants in ANK2. This study shows that inherited heart disease may be a significant risk factor for SUD in some epilepsy cases, even if pathological findings of the heart had not progressed to an advanced stage of the disease. A combination of detailed pathological examination of the heart and gene analysis using NGS may be useful for evaluating arrhythmogenic potential of epilepsy-related SUD.
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