ArticlePediatric cardiology2009
Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.
Article in Pediatric cardiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- KCNQ1 rs2237892 C→T gene polymorphism and type 2 diabetes mellitus in the Asian population: a meta-analysis of 15,736 patients.Journal of cellular and molecular medicine · 2014Pooled it
- Guideline
- Guideline
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Early Currents: Developmental Electrophysiology and Arrhythmia in Pediatric Congenital Heart Disease.Journal of cardiovascular development and disease · 2025Review
- QTc Interval Reference Values and Their (Non)-Maturational Factors in Neonates and Infants: A Systematic Review.Children (Basel, Switzerland) · 2022Review
- A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.American journal of human genetics · 2022Article
- Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.Scientific reports · 2021Article
- HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.BMC medical genomics · 2021Article
- A Common 3'UTR Variant of theFrontiers in neurology · 2021Article
- The role of sodium channels in sudden unexpected death in pediatrics.Molecular genetics & genomic medicine · 2020Article
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.Human mutation · 2019Article
- A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.Journal of pediatric genetics · 2018Review
- Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.Forensic science, medicine, and pathology · 2018Article
- Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.Journal of biological research (Thessalonike, Greece) · 2017Review
- Sudden infant death syndrome and inherited cardiac conditions.Nature reviews. Cardiology · 2017Review
- Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.Journal of human genetics · 2017Article
- Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.European journal of human genetics : EJHG · 2016Article
- Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?International journal of legal medicine · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A cohort of 52 French unrelated infant cases who died unexpectedly before they reached 12 months of age was blindly investigated to better quantify the contribution of long-QT syndrome (LQTS) genetic variants in French cases of sudden infant death syndrome (SIDS). After a standardized autopsy protocol, a blinded molecular screening of the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was performed on each case. These postmortem investigations enabled us to reclassify 18 as non-SIDS cases, 32 as SIDS cases, and 2 as suspected SIDS cases. Among the 18 non-SIDS cases, no LQTS mutation was identified. In contrast, our results led to a possible explanation for the death of at least three infants in the SIDS cohort. Half of the LQTS gene variants identified were located on the SCN5A gene. This study confirms that LQTS mutations may represent one of the leading genetic causes of SIDS. If autopsy fails to provide an explanation for an unexplained infant death, medicolegal investigation should be extended with a molecular screening of major LQTS genes. Identification of more LQTS mutations in SIDS cases could provide new insights into the pathophysiology of SIDS and, consequently, reduce the number of unexplained sudden infant deaths.
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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.