Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
AuthorBleakley, LE; Soh, MS; Bagnall, RD; Sadleir, LG; Gooley, S; Semsarian, C; Scheffer, IE; Berkovic, SF; Reid, CA
Source TitleFrontiers in Neurology
PublisherFRONTIERS MEDIA SA
University of Melbourne Author/sReid, Christopher; Scheffer, Ingrid; Berkovic, Samuel; Bleakley, Lauren; Soh, Ming Shiuan; Gooley, Sam
AffiliationMedicine and Radiology
Florey Department of Neuroscience and Mental Health
Document TypeJournal Article
CitationsBleakley, L. E., Soh, M. S., Bagnall, R. D., Sadleir, L. G., Gooley, S., Semsarian, C., Scheffer, I. E., Berkovic, S. F. & Reid, C. A. (2020). Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?. FRONTIERS IN NEUROLOGY, 11, https://doi.org/10.3389/fneur.2020.00925.
Access StatusOpen Access
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.
- Click on "Export Reference in RIS Format" and choose "open with... Endnote".
- Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References