ArticlePacing and clinical electrophysiology : PACE2017
Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.
Article in Pacing and clinical electrophysiology : PACE, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Biophysical mechanisms of myocardium sodium channelopathies.Pflugers Archiv : European journal of physiology · 2024Review
- Challenges in Brugada Syndrome Stratification: InvestigatingInternational journal of molecular sciences · 2023Article
- Brugada Syndrome: More than a Monogenic Channelopathy.Biomedicines · 2023Review
- Functional Characterization of Two Novel Mutations inInternational journal of molecular sciences · 2021Article
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
- A distinct molecular mechanism by which phenytoin rescues a novel long QT 3 variant.Journal of molecular and cellular cardiology · 2020Article
- Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in theInternational journal of molecular sciences · 2019Article
- Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective.Forensic science, medicine, and pathology · 2019Article
- Functional significance of channelopathy gene variants in unexplained death.Forensic science, medicine, and pathology · 2019Review
- Functional characterization of SCN10A variants in several cases of sudden unexplained death.Forensic science international · 2019Article
- Functional characterization of ABCC9 variants identified in sudden unexpected natural death.Forensic science international · 2019Article
- SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis.Frontiers in genetics · 2019Article
- Article
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
- Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundTwo genetic variants in SCN5A, encoding the Nav1.5 Na METHODS AND
resultsTo investigate their functional relevance with patch clamp experiments in transfected HEK-293 cells. The Q1832E mutation drastically reduced Nav1.5 current density. The R1944Δ C-terminal truncation had negligible effects on Nav1.5 current density. Neither of the mutations affected the voltage dependence of steady activation and inactivation or influenced the late Na
conclusionsThese sudden infant death syndrome (SIDS)-related variants caused a severely dysfunctional Nav1.5 channel, which was mainly due to trafficking defects caused by the Q1832E mutation. The decreased current density is likely to be a major contributing factor to arrhythmogenesis in Brugada syndrome and the sudden death of this SIDS victim.
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