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 with SUDEP [2,3], but there is also equally strong, if not more so, data for cardiac abnormalities, particularly cardiac arrhythmias (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 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.