University Of Sydney The actual cause of sudden unexpected death in epilepsy (SUDEP) probably responsible for about 150 Australian deaths was under covers for many decades. A groundbreaking research undertaken by the Centenary Institute and the University of Sydney asserts that faulty heart genes trigger SUDEP.

Epilepsy patients who succumbed to a sudden unexpected death apparently had certain genetic mutations. Such mutations can supposedly be identified in long QT syndrome, a potentially fatal heart disorder. Mutations in more than 10 genes probably lead to the occurrence of this heart disease. From a total of 10 genes, eight of them seemingly interfere with the ion channel of cell membranes and hamper their ability to control electrical activity in the body. Disruption of the ion channels allegedly result in abnormal, life-threatening heart rhythms.

“Sudden unexpected death in epilepsy occurs mainly in young people so these findings could have a huge impact in saving lives through early diagnosis. The ultimate goal will be to use genetic screening of patients with epilepsy to identify these gene mutations that could increase the risk of sudden unexpected death,” elucidated Professor Chris Semsarian, lead investigator, Centenary Institute and University of Sydney Head of Molecular Cardiology.

Post-mortem blood samples of sudden unexpected death in epilepsy cases from 1993 to 2009 were examined. While evaluating the presence of three most common long QT syndrome genes known as KCNQ1, KCNH2 (HERG), SCN5A, scientists laid hands on the seeming link between heart disease and SUDEP. From the 48 thoroughly analyzed cases, presence of faulty genes was registered in 13 percent cases i.e., six samples. Genetic mutations disrupting the ion channels appear to be involved in sudden death among epilepsy patients. Further investigations can be commenced for understanding the precise role of these genetic mutations.

The research was published in Brain Pathology.