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

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

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Item Type: Article
Status: Published
Official URL:
Journal or Publication Title: Frontiers in Neurology
Volume: 11
Date: 2020
Divisions: Molecular Cardiology
Depositing User: General Admin
Identification Number: 10.3389/fneur.2020.00925
ISSN: 1664-2295
Date Deposited: 04 Jan 2021 00:28

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.

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.
Last Modified: 04 Jan 2021 00:28

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