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Title: Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
Austin Authors: Bleakley, Lauren E;Soh, Ming S;Bagnall, Richard D;Sadleir, Lynette G;Gooley, Samuel;Semsarian, Christopher;Scheffer, Ingrid E ;Berkovic, Samuel F ;Reid, Christopher A
Affiliation: Epilepsy Research Centre
Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australia
Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand
Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australia
Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, Australia
Issue Date: 8-Sep-2020
Date: 2020-09-08
Publication information: Frontiers in Neurology 2020; 11: 925
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.
DOI: 10.3389/fneur.2020.00925
Journal: Frontiers in Neurology
PubMed URL: 33013630
ISSN: 1664-2295
Type: Journal Article
Subjects: cardiac arrhythmia
common variants
ion channels
sudden unexpected death in epilepsy
Appears in Collections:Journal articles

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