Journal article

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Lauren E Bleakley, Ming S Soh, Richard D Bagnall, Lynette G Sadleir, Samuel Gooley, Christopher Semsarian, Ingrid E Scheffer, Samuel F Berkovic, Christopher A Reid

Frontiers in Neurology | FRONTIERS MEDIA SA | Published : 2020


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 c..

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Awarded by National Health and Medical Research Council (NHMRC) Program Grant

Awarded by NHMRC Practitioner Fellowship

Funding Acknowledgements

This work was supported by the National Health and Medical Research Council (NHMRC) Program Grant (10915693) to SB, IS, and CR; by Cure Kids New Zealand to LS; and by an anonymous philanthropic gift for SUDEP research to SB and IS. CR would like to acknowledge the CURE foundation for support. CS was the recipient of an NHMRC Practitioner Fellowship (#1154992). IS holds an NHMRC Practitioner Fellowship and an Investigator Fellowship. LB acknowledges the support of an Australian Government Research Training Program Scholarship. The Florey Institute of Neuroscience and Mental Health were supported by the Victorian State Government infrastructure funds.