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Sudden Unexpected Death in Epilepsy (SUDEP)
Sudden unexpected death in epilepsy (SUDEP) is a common cause of premature mortality among people with epilepsy (PWE). The overall incidence rate of...
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family...
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Cell death in the lateral geniculate nucleus, and its possible relationship with nicotinic receptors and sudden infant death syndrome (SIDS)
The role of the lateral geniculate nucleus (LGN) in vision has been extensively studied, yet its extraretinal capacities are still being...
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Air Pollution and Temperature: a Systematic Review of Ubiquitous Environmental Exposures and Sudden Cardiac Death
Purpose of ReviewEnvironmental exposures have been associated with increased risk of cardiovascular mortality and acute coronary events, but their...
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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether...
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Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner’s office referrals to a multi-disciplinary cardiogenetics program
Currently, no standardized system exists for evaluating and testing at-risk family members of decedents with abnormal post-mortem genetic testing in...
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Screening for viral pathogens in the gastrointestinal tract from cases of sudden unexpected death in infancy at the Tygerberg Medico-legal Mortuary
Sudden and unexpected death in infancy (SUDI) may be triggered by an external risk or exposure. Intestinal infections with enteric viruses may...
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Quantification of 108 illicit drugs and metabolites in bile matrix by LC–MS/MS for the toxicological testing of sudden death cases
Sudden death could occur after assumption of illicit drugs for recreational purposes in adults or after intoxication in children, and toxicological...
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Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death
ObjectiveWe conducted an investigation into the clinical and molecular characteristics of Arrhythmogenic left ventricular cardiomyopathy (ALVC)...
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PREDICTION OF THE RISK OF SUDDEN CARDIAC DEATH BASED ON HEART RATE VARIABILITY ANALYSIS AND THE DIAGNOSIS OF DANGEROUS RHYTHM DISORDERS
A method for the differential diagnosis of dangerous cardiac arrhythmias at short time intervals is proposed. The possibility of detecting...
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
PurposeBiallelic hypomorphic variants in PPA2 , encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in...
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Seizures Induce Hypoxia, and Hypoxia Induces Seizures: A Perverse Relationship That Increases the Risk of Sudden Unexpected Death in Epilepsy (SUDEP)
Hypoxia can promote both rescue-survival mechanisms and irreversible events leading to cell death. How many types of hypoxia are known, and what is...
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X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
PurposeCreatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD...
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HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death
BackgroundMolecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene...
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Dysregulated CREB3 cleavage at the nuclear membrane induces karyoptosis-mediated cell death
Cancer cells often exhibit resistance to apoptotic cell death, but they may be vulnerable to other types of cell death. Elucidating additional...
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Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
PurposeVariants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause...
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Characterization of an N-terminal Nav1.5 channel variant – a potential risk factor for arrhythmias and sudden death?
BackgroundAlterations in the SCN5A gene encoding the cardiac sodium channel Na v 1.5 have been linked to a number of arrhythmia syndromes and diseases...
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Regulated cell death pathways in cardiomyopathy
Heart disease is a worldwide health menace. Both intractable primary and secondary cardiomyopathies contribute to malignant cardiac dysfunction and...
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The Unfolded Protein Response in the Human Infant Brain and Dysregulation Seen in Sudden Infant Death Syndrome (SIDS)
Low orexin levels in the hypothalamus, and abnormal brainstem expression levels of many neurotransmitter and receptor systems in infants who died...
