ArticleEpilepsia2018
SCN1A variants associated with sudden infant death syndrome.
Article in Epilepsia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
24 citing papers in PubMed, 38 citations in OpenAlex.
- A Streamlined Workflow for Purkinje Cell Labeling and High-Resolution Analyses of Dendrites and Spines in Mice.eNeuro · 2026Article
- Brainstem depolarization-induced lethal apnea associated with gain-of-functionProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Video Analyses of Sudden Unexplained Deaths in Toddlers.Neurology · 2024Article
- The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.Genome medicine · 2024Article
- Sudden Infant Death Syndrome (SIDS): State of the Art and Future Directions.International journal of medical sciences · 2024Review
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths.Frontiers in medicine · 2023Article
- Genetic Determinants of Sudden Unexpected Death in Pediatrics.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota.The pharmacogenomics journal · 2022Article
- Sudden unexpected death in epilepsy: Respiratory mechanisms.Handbook of clinical neurology · 2022Review
- Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.Clinical and translational medicine · 2021Review
- Aquaporin-1 and aquaporin-9 gene variations in sudden infant death syndrome.International journal of legal medicine · 2021Article
- Seizure-related deaths in children: The expanding spectrum.Epilepsia · 2021Article
- Sudden Infant Death Syndrome: Beyond Risk Factors.Life (Basel, Switzerland) · 2021Review
- Review
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
- X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy.Brain communications · 2021Article
- Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome.Frontiers in pediatrics · 2021Article
- The role of sodium channels in sudden unexpected death in pediatrics.Molecular genetics & genomic medicine · 2020Article
- Inconsistent classification of unexplained sudden deaths in infants and children hinders surveillance, prevention and research: recommendations from The 3rd International Congress on Sudden Infant and Child Death.Forensic science, medicine, and pathology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS. Our findings provide insights into SIDS and support genetic evaluation focused on epilepsy genes in SIDS.
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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.