ArticleInternational journal of legal medicine2013
Cardiac channelopathy causing sudden death as revealed by molecular autopsy.
Article in International journal of legal medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 32 citations in OpenAlex.
- Contemporary local anaesthetic-associated adverse events and mortality: a pharmacovigilance analysis of a US reporting system.British journal of anaesthesia · 2025Article
- HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.BMC medical genomics · 2021Article
- The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency.Channels (Austin, Tex.) · 2020Article
- Local anaesthesia in dentistry: a review.International dental journal · 2020Article
- A de novo ryanodine receptor 2 gene variant in a case of sudden cardiac death.International journal of legal medicine · 2020Article
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- Development and diversity of a novel panel of short tandem repeat markers encompassing the SCN5Agene in Iranian population.Journal of genetics · 2018Article
- Influence of genetic modifiers on sudden cardiac death cases.International journal of legal medicine · 2018Article
- Medico-legal perspectives on sudden cardiac death in young athletes.International journal of legal medicine · 2017Review
- Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.International journal of legal medicine · 2017Article
- The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths.International journal of legal medicine · 2016Article
- Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.International journal of legal medicine · 2016Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in cardiac ion channel genes have been identified to cause sudden unexplained deaths (SUD), and polymorphisms have also been suggested to be risk factors. Therefore, postmortem genetic testing has become an important tool in elucidating the cause of death. METHODS AND
resultsIn a sudden death case, a LQT-3-associated mutation (Il768V) in the cardiac sodium channel gene SCN5A was detected beside the common polymorphism H558R which is known to mitigate the effect of mutations in the gene. Both sequence variations were heterozygous. Large number of intervening base pairs make it impossible to identify whether they were located in cis or trans. Functional consequences of both variants were characterized after expressing different cRNAs in Xenopus oocytes by voltage clamp measurements. Western blot analysis indicates that the cis configuration of both variants may lead to a null allele. Since the woman had received an injection of Ultracain®, the potential effect of this drug was tested. In a trans configuration of both variants, the mutant channel exhibited an increase susceptibility of at least 10% for blocking with the drug articaine. Another novel finding is that the midpoint of activation in the case of the mutant channel is leftward shifted of at least -10 mV.
conclusionThe results of the study suggest that postmortem molecular screening is an important tool to elucidate the cause of SUD and that the administration of a drug and a functional interaction between polymorphisms and ion channel mutations may trigger the risk for sudden death.
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