Epilepsy related sudden death
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001000352 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:These samples include exome sequences of samples from patients who suffered Sudden Unexplained Death in Epilepsy. They all are of European descent. .
This dataset contains all the data available for this study on 2019-08-21.
| EGAD00001005276 | EGA
Project description:Sudden unexplained death in childhood (SUDC) is death of a child over one year of age that is unexplained after review of clinical history, circumstances of death, and complete autopsy with ancillary testing. Multiple etiologies may cause SUDC, with parallels to sudden unexpected death in epilepsy (SUDEP) in SUDC with a history of febrile seizures, suggesting possible abnormalities in hippocampus and cortex. To identify molecular signaling pathways underlying SUDC, we performed label-free quantitative mass spectrometry on microdissected frontal cortex, hippocampal dentate gyrus (DG), and cornu ammonis (CA1-3) in SUDC (n=19) and pediatric control cases (n=19) with an explained cause of death.
2021-12-23 | MSV000088611 | MassIVE
Project description:Identification of Plasma Biomarkers for Sudden Unexpected Death in Epilepsy through Integrated Proteomics and Metabolomics
2025-07-28 | PXD066692 |
Project description:Brainstem nuclei dysfunction is implicated in sudden unexpected death in epilepsy (SUDEP). In animal models, deficient serotonergic activity is associated with seizure-induced respiratory arrest. In humans, glia are decreased in the ventrolateral medullary pre-Botzinger complex that modulates respiratory rhythm, as well as in the medial raphe that modulates respiration and arousal. Finally, SUDEP cases have decreased midbrain volume.
To understand the potential role of brainstem nuclei in SUDEP, we evaluated molecular signaling pathways using localized proteomics in microdissected midbrain dorsal raphe and medullary raphe serotonergic nuclei, as well as the ventrolateral medulla in brain tissue from epilepsy patients who died of SUDEP and other causes in diverse epilepsy syndromes, and non-epilepsy control cases
2021-12-14 | MSV000088563 | MassIVE
Project description:Focal epilepsy human surgical samples
| PRJNA941830 | ENA
Project description:Temporal lobe epilepsy (TLE) is the most common subtype of epilepsy in adults and is characterized by neuronal loss, gliosis, and sprouting mossy fibers in the hippocampus. But the mechanism underlying neuronal loss has not been fully elucidated. A new programmed cell death, cuproptosis, has recently been discovered; however, its role in TLE is not clear. To investigate the the features of 12 cuproptosis-related genes in TLEs and controls，six epileptic focus specimens were obtained from the hippocampus of patients diagnosed with intractable TLE according to the International League Against Epilepsy (ILAE) diagnostic criteria (Blümcke et al., 2013). Because the hippocampal specimens from age matched controls were sparse, we only collected two control hippocampi from autopsied individuals without a known history of neurologic or psychiatric disease, ensuring a 3:1 disease-to control match.
2023-06-20 | E-MTAB-13092 | biostudies-arrayexpress
Project description:Pediatric epilepsy is a neurological condition that causes repeated and unprovoked seizures and is more common in 1–5-year-old children. Drug resistance has been indicated as a key challenge in improving the clinical outcomes of patients with pediatric epilepsy. In the present study, we aimed to identify serum small extracellular vesicles (sEVs) derived microRNAs (miRNAs) from the serum samples of children for predicting the prognosis in patients with epilepsy and drug-resistant epilepsy
2022-01-20 | GSE193842 | GEO
Project description:Epilepsy frequently develops as a result of brain insult, for example brain injury or stroke. Currently there are no tools allowing us to predict which trauma patients will eventually develop epilepsy. There is evidence that microRNAs levels are altered in plasma, making them attractive candidates for peripheral biomarkers of epilepsy. We analyzed miRNA levels in plasma samples using Affymetrix microarrays 4.1 and performed comparative analysis of samples. We performed 3 comparisons: i) control animals vs. Status epilepticus animals, ii) animals which developed first spontaneous seizure around 7 days post stimulation (EARLY), or later after 21days post stimulation (LATE), iii) animals that had developed seizures at given timepoint (EPI) and animals that did not experience seizures by given timepoint (NONEPI).
2023-12-10 | GSE241756 | GEO
Project description:Sudden unexplained death in childhood (SUDC) is death of a child 12 months old that is unexplained after autopsy and detailed analyses. Among SUDC cases, 28.8% have febrile seizure (FS) history, versus 2-5% in the general population. SUDC cases share features with sudden unexpected death in epilepsy (SUDEP) and sudden infant death syndrome (SIDS), in which brainstem autonomic dysfunction is implicated. To understand whether brainstem protein changes are associated with FS history in SUDC, we performed label-free quantitative mass spectrometry on microdissected midbrain dorsal raphe, medullary raphe, and the ventrolateral medulla (n=8 SUDC-noFS, n=11 SUDC-FS). Differential expression analysis at p<0.05 identified 178 altered proteins in dorsal raphe, 344 in medullary raphe, and 100 in the ventrolateral medulla. These proteins were most significantly associated with increased eukaryotic translation initiation (p=3.09x10-7, z=1.00), eukaryotic translation elongation (p=6.31x10-49, z=6.01), and coagulation system (p=1.32x10-5, z=1.00), respectively. The medullary raphe had the strongest enrichment for altered signaling pathways, including with comparisons to three other brain regions previously analyzed (frontal cortex, hippocampal dentate gyrus, cornu ammonus). Histological analyses of serotonin receptors identified 2.1-fold increased 5HT2A in the medullary raphe of SUDC-FS (p= 0.025). Weighted gene correlation network analysis (WGCNA) of case history indicated that longer FS history duration significantly correlated with protein levels in the medullary raphe and ventrolateral medulla; the most significant gene ontology biological processes were decreased cellular respiration (p=9.8x10-5, corr=-0.80) in medullary raphe and synaptic vesicle cycle (p=1.60x10-7, corr=-0.90) in the ventrolateral medulla. Overall, FS in SUDC was associated with more protein differences in the medullary raphe and was related to increased translation-related signaling pathways. Our study informs on SUDC pathogenesis and the potential development of prognostic biomarkers and preventive therapeutic strategies.
2024-08-12 | MSV000095576 | MassIVE