ArticleNPJ genomic medicine2018
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Article in NPJ genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Cardiac structural and functional abnormalities in epilepsy: A systematic review and meta-analysis.Epilepsia open · 2023Pooled it
- Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?International journal of legal medicine · 2026Review
- Intersection of epilepsy and cardiac health: Insights from electrocardiography and syndromic associations.Epilepsia · 2025Review
- Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges.Epilepsia open · 2025Review
- The Crucial Interplay Between the Lungs, Brain, and Heart to Understand Epilepsy-Linked SUDEP: A Literature Review.Brain sciences · 2025Review
- Neurotransmission Sex Dichotomy in the Rat Hypothalamic Paraventricular Nucleus in Healthy and Infantile Spasm Model.Current issues in molecular biology · 2025Article
- Characterising Shared and Specific Cell-Cell Communication in Cardiomyopathy Subtypes From Single-Cell Transcriptomics Data.Journal of cellular and molecular medicine · 2025Article
- Epilepsy professionals' views on sudden unexpected death in epilepsy counselling: A tale of two countries.European journal of neurology · 2024Article
- Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.BMC neurology · 2024Article
- Article
- Sudden death in epilepsy: the overlap between cardiac and neurological factors.Brain communications · 2024Review
- Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.Frontiers in neurology · 2024Article
- Enhanced Membrane Incorporation of H289Y Mutant GluK1 Receptors from the Audiogenic Seizure-Prone GASH/Sal Model: Functional and Morphological Impacts onInternational journal of molecular sciences · 2023Article
- Caffeine exacerbates seizure-induced death via postictal hypoxia.Scientific reports · 2023Article
- Mitochondrial calcium cycling in neuronal function and neurodegeneration.Frontiers in cell and developmental biology · 2023Review
- Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.BMC neurology · 2022Article
- Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.Annals of neurology · 2022Article
- Review: Neuropathology findings in autonomic brain regions in SUDEP and future research directions.Autonomic neuroscience : basic & clinical · 2021Review
- Adrenergic α2 receptors are implicated in seizure-induced respiratory arrest in DBA/1 mice.Life sciences · 2021Article
- Fumaric acid and succinic acid treat gestational hypertension by downregulating the expression of KCNMB1 and TET1.Experimental and therapeutic medicine · 2021Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality in young adults. The exact mechanisms are unknown but death often follows a generalized tonic-clonic seizure. Proposed mechanisms include seizure-related respiratory, cardiac, autonomic, and arousal dysfunction. Genetic drivers underlying SUDEP risk are largely unknown. To identify potential SUDEP risk genes, we compared whole-exome sequences (WES) derived from formalin-fixed paraffin embedded surgical brain specimens of eight epilepsy patients who died from SUDEP with seven living controls matched for age at surgery, sex, year of surgery and lobe of resection. We compared identified variants from both groups filtering known polymorphisms from publicly available data as well as scanned for epilepsy and candidate SUDEP genes. In the SUDEP cohort, we identified mutually exclusive variants in genes involved in µ-opiod signaling, gamma-aminobutyric acid (GABA) and glutamate-mediated synaptic signaling, including
Identifiers
What OpenQuestion holds
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.