CURE Epilepsy grantee Dr. Christopher Reid is exploring the genetics and links between cardiac abnormalities and SUDEP risk.

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** Heart Dysfunction Is a Risk Factor for SUDEP
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Key Points:
* CURE Epilepsy Award grantee Dr. Christopher Reid and his team sought to understand the genetic connection between sudden expected death in epilepsy (SUDEP) and cardiac arrhythmia with the goal of improving treatment for people with epilepsy and reducing the risk of SUDEP.
* The team focused on KCNH2, a gene whose loss-of-function mutations are linked to cardiac arrhythmias and increased SUDEP risk in humans.
* Currently, the team is generating laboratory models with genetic mutations comparable to those found in humans, to explore the link between cardiac abnormalities and SUDEP risk with greater precision than is feasible with humans.

Deep Dive:

SUDEP is the most common cause of death among people with treatment-resistant epilepsy [1], but its underlying biological cause remains obscure. There is strong evidence of the association of breathing problems ([link removed]) with SUDEP [2,3], but there is also equally strong, if not more so, data for cardiac abnormalities, particularly cardiac arrhythmias ([link removed]) (irregular heartbeat). In fact, studies have found mutations in genes associated with cardiac arrhythmias in SUDEP patients [4].

Dr. Christopher Reid and his team at the Florey Institute of Neuroscience & Mental Health at the University of Melbourne sought to build upon the known relationship between cardiac abnormalities and SUDEP risk ([link removed]) by identifying specific genes involved in proper cardiac function. With the assistance of a CURE Epilepsy Award, they chose to focus on a gene known as KCNH2, which affects the spread of electrical signals in the heart. KCNH2 variants that result in a loss of cardiac function are a well-known cause of long QT syndrome [5], a potentially fatal condition that affects heart function and which has as a distinct pattern on an electrocardiogram.
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