ArticleVirchows Archiv : an international journal of pathology2008
Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.
Article in Virchows Archiv : an international journal of pathology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 42 citations in OpenAlex.
- Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.International journal of legal medicine · 2024Article
- Philemon and Baucis death: a literature review.International journal of legal medicine · 2024Review
- Cause of Death in Charred Bodies: Reflections and Operational Insights Based on a Large Cases Study.Diagnostics (Basel, Switzerland) · 2022Article
- Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.International journal of molecular sciences · 2022Review
- Pharmacogenetics and Forensic Toxicology: A New Step towards a Multidisciplinary Approach.Toxics · 2021Review
- Forensic Post-Mortem Investigation in AAS Abusers: Investigative Diagnostic Protocol. A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Sudden Death in Adults: A Practical Flow Chart for Pathologist Guidance.Healthcare (Basel, Switzerland) · 2021Review
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
- The role of sodium channels in sudden unexpected death in pediatrics.Molecular genetics & genomic medicine · 2020Article
- Sudden infant death syndrome and inherited cardiac conditions.Nature reviews. Cardiology · 2017Review
- Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.Pacing and clinical electrophysiology : PACE · 2017Article
- Cardiac ion channelopathies and the sudden infant death syndrome.ISRN cardiology · 2012Article
- Gene variants predisposing to SIDS: current knowledge.Forensic science, medicine, and pathology · 2011Review
- Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.Cardiovascular research · 2009Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type Valpha (C-20) and a terminal deoxynucleotidyl transferase deoxyuridine triphosphate nick end labeling assay. The cellular localization of the Na+ CP type Valpha (C-20) demonstrated by confocal microscopy on staining pattern of myocytes was concentrated in the intercalated disks of ventricular myocytes. These findings suggest that defective ion channels represent viable candidates for the pathogenesis of SIDS and, obviously, of SSIDS, supporting a link between sudden infant death syndrome and cardiac channelopathies.
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