Researchers say they’ve identified a gene mutation that might increase the risk of sudden death in people with mild epilepsy.
The researchers studied a four-generation family with nine members who had epilepsy caused by a mutation of the DEPDC5 gene.
This form of epilepsy is considered mild. But, two of the family members suffered what is known as sudden unexpected death in epilepsy (SUDEP), which is statistically significant for the small number of people in the study, according to the researchers in the Adult Genetic Epilepsy Program of the Krembil Neuroscience Center in Toronto.
But the study did not prove that the gene mutation caused the increased risk for SUDEP.
SUDEP is when a person with epilepsy who is otherwise healthy dies unexpectedly and without an apparent cause. About one in 1,000 people with epilepsy die of SUDEP each year, the researchers said.
“This finding is very important because SUDEP is much more common in patients with very severe forms of epilepsy where they are having seizures almost daily,” principal investigator Dr. Danielle Andrade, neurologist and medical director of the epilepsy program, said in a University Health Network news release.
“Now that we have evidence that a particular gene increases the risk of SUDEP in patients with mild epilepsy, we can not only screen them for this mutation but it also helps us better counsel our patients about their risk,” Andrade added.
The study was published recently in the journal Neurology: Genetics.
“This new evidence of the DEPDC5 gene being a risk factor means we may have more patients than we previously thought that are at risk of SUDEP,” Andrade said. “So this helps to strengthen a physician’s argument as to why their patients need to stick to their medication regimen even if their seizures are mild and infrequent.”
The American Academy of Family Physicians has more about epilepsy.