Monday 19 December 2016 12:15pm
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature death for people with epilepsy, accounting for 18% of all epilepsy-related deaths. The cause of death in these cases are unclear and usually occur during sleep. Individuals who die from SUDEP show no signs of choking or impact, and they may not even have experienced a seizure prior to their death. Without warning, or apparent reason, these people just pass away. While SUDEP is uncommon it is still a very frightening reality for individuals with epilepsy and their families.
There is unlikely to be a singular cause for SUDEP. Epilepsy itself is a very broad umbrella term which is used to describe recurring seizures of any type, and the impact of each person’s epilepsy on their brain and body will be unique to them as an individual. The importance of research in this area is to narrow down the potential causes of SUDEP and give clinicians something to look for, and potentially treat ahead of time.
A team of researchers, including Associate Professor Lynette Sadleir of the Brain Health Research Centre, have recently been able to identify some of the genes which could predispose individuals toward SUDEP. The genomes of sixty-one individuals who had died of SUDEP were analysed by the researchers and, while they weren’t able to identify any genetic alterations shared by all subjects, they were able to identify some trends. Almost half of the individuals tested had mutations either on genes known to be involved in epilepsy or in genes known to be involved in cardiac arrhythmia.
This gives us a place to start. While SUDEP is more common in people with severe epilepsy it is not exclusive to that group. Identifying a link with known epilepsy genes suggests that there is an issue specific to the epilepsy which is causing death. The link between SUDEP and genes related to cardiac arrhythmia gives clinicians something specific to look for when assessing an individual’s risk of sudden death.
The more information we have about these links the better equipped we will be to prevent sudden death in the future. While more research is clearly needed this is a good start for identifying individuals who may be at risk.
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