ReviewBiology2017
Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.
Review in Biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed.
- Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation.Frontiers in genetics · 2026Article
- Article
- An hiPSC-CM approach for electrophysiological phenotyping of a patient-specific case of short-coupled TdP.Stem cell research & therapy · 2024Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Review
- Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Autopsy.Current issues in molecular biology · 2024Review
- Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies.Journal of clinical medicine · 2024Review
- A novel variation inFrontiers in genetics · 2024Article
- Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report.Frontiers in genetics · 2024Article
- Review
- Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual.Cardiology research · 2023Article
- Rupture of Splenic Artery Aneurysm in Patient with ACTN2 Mutation.Journal of clinical medicine · 2023Article
- Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.Frontiers in medicine · 2023Review
- Review
- Rare disorders have many faces: in silico characterization of rare disorder spectrum.Orphanet journal of rare diseases · 2022Article
- A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.Journal of human genetics · 2022Review
- Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.Biomedicines · 2022Review
- Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.NPJ genomic medicine · 2021Article
- Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings.Diagnostics (Basel, Switzerland) · 2021Article
- Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.Herz · 2021Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance and variable expressivity, which are hallmarks in these syndromes. The clinical manifestation of these diseases can range from asymptomatic to syncope but sudden death can sometimes be the first symptom of disease. Early identification of at-risk individuals is crucial to prevent a lethal episode. In this review, we will focus on the genetic basis of channelopathies and the effect of genetic and non-genetic modifiers on their phenotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.