Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25063
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dc.contributor.authorBleakley, Lauren E-
dc.contributor.authorSoh, Ming S-
dc.contributor.authorBagnall, Richard D-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorGooley, Samuel-
dc.contributor.authorSemsarian, Christopher-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorReid, Christopher A-
dc.date2020-09-08-
dc.date.accessioned2020-10-15T03:17:12Z-
dc.date.available2020-10-15T03:17:12Z-
dc.date.issued2020-09-08-
dc.identifier.citationFrontiers in Neurology 2020; 11: 925en
dc.identifier.issn1664-2295
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/25063-
dc.description.abstractSudden 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.isoeng
dc.subjectcardiac arrhythmiaen
dc.subjectcommon variantsen
dc.subjectepilepsyen
dc.subjectgeneticsen
dc.subjection channelsen
dc.subjectsudden unexpected death in epilepsyen
dc.titleAre Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?en
dc.typeJournal Articleen
dc.identifier.journaltitleFrontiers in Neurologyen
dc.identifier.affiliationEpilepsy Research Centreen
dc.identifier.affiliationFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australiaen
dc.identifier.affiliationAgnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australiaen
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealanden
dc.identifier.affiliationDepartment of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australiaen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, Australiaen
dc.identifier.doi10.3389/fneur.2020.00925en
dc.type.contentTexten
dc.identifier.pubmedid33013630
local.name.researcherBerkovic, Samuel F
item.fulltextNo Fulltext-
item.languageiso639-1en-
item.grantfulltextnone-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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