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https://ahro.austin.org.au/austinjspui/handle/1/25063
Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Bleakley, Lauren E | - |
dc.contributor.author | Soh, Ming S | - |
dc.contributor.author | Bagnall, Richard D | - |
dc.contributor.author | Sadleir, Lynette G | - |
dc.contributor.author | Gooley, Samuel | - |
dc.contributor.author | Semsarian, Christopher | - |
dc.contributor.author | Scheffer, Ingrid E | - |
dc.contributor.author | Berkovic, Samuel F | - |
dc.contributor.author | Reid, Christopher A | - |
dc.date | 2020-09-08 | - |
dc.date.accessioned | 2020-10-15T03:17:12Z | - |
dc.date.available | 2020-10-15T03:17:12Z | - |
dc.date.issued | 2020-09-08 | - |
dc.identifier.citation | Frontiers in Neurology 2020; 11: 925 | en |
dc.identifier.issn | 1664-2295 | |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/25063 | - |
dc.description.abstract | Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDEP. Furthermore, variants in genes associated with Long QT syndrome (LQTS) have been identified in patients with SUDEP. LQTS is a cardiac arrhythmia condition that causes sudden cardiac death with strong similarities to SUDEP. Here, we discuss the possibility of an additive risk of death due to the functional consequences of a pathogenic variant in an LQTS gene interacting with seizure-mediated changes in cardiac function. Extending this general concept, we propose a hypothesis that common variants in LQTS genes, which cause a subtle impact on channel function and would not normally be considered risk factors for cardiac disease, may increase the risk of sudden death when combined with epilepsy. A greater understanding of the interaction between epilepsy, cardiac arrhythmia, and SUDEP will inform our understanding of SUDEP risk and subsequent potential prophylactic treatment. | en |
dc.language.iso | eng | |
dc.subject | cardiac arrhythmia | en |
dc.subject | common variants | en |
dc.subject | epilepsy | en |
dc.subject | genetics | en |
dc.subject | ion channels | en |
dc.subject | sudden unexpected death in epilepsy | en |
dc.title | Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? | en |
dc.type | Journal Article | en |
dc.identifier.journaltitle | Frontiers in Neurology | en |
dc.identifier.affiliation | Epilepsy Research Centre | en |
dc.identifier.affiliation | Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia | en |
dc.identifier.affiliation | Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australia | en |
dc.identifier.affiliation | Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand | en |
dc.identifier.affiliation | Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australia | en |
dc.identifier.affiliation | Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, Australia | en |
dc.identifier.doi | 10.3389/fneur.2020.00925 | en |
dc.type.content | Text | en |
dc.identifier.pubmedid | 33013630 | |
local.name.researcher | Berkovic, Samuel F | |
item.fulltext | No Fulltext | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
item.openairetype | Journal Article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Neurology | - |
Appears in Collections: | Journal articles |
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