Epilepsy and sudden death linked to bad gene


In sudden death in epilepsy, people stop breathing for no apparent reason and die. Now, a group of UConn neuroscientists have a lead as to why. Many neurologists argue that a bad seizure can travel through the brain to cause breathing or heartbeat malfunction, and that’s what kills. But epileptics can die suddenly without having an obvious seizure. Instead, the researchers have evidence a genetic mutation that causes the seizures also disrupts the cells that control breathing.

«People with epilepsy have a high mortality rate, but it’s mysterious,» says Dan Mulkey, a neuroscientist in UConn’s physiology and neurobiology department.

More than one of every 1,000 people with epilepsy die each year from what’s called sudden unexpected death in epilepsy (SUDEP). No one knows why.

The explanation usually given is that the patient had a seizure that killed them. But seizures happen in the cortex, the top of the brain, and life-sustaining processes like breathing are controlled somewhere else entirely: the brainstem, the very bottom part of the brain that connects to the spinal cord. The two parts of the brain are quite distant from each other.

«It’s like, if the seizure is in New York, the brainstem is in San Francisco,» Mulkey says.

Many neurologists argue that a particularly bad seizure can travel down through the brain from the cortex to the brainstem to cause breathing or heartbeat malfunction, and that’s what kills in SUDEP. But Mulkey doesn’t buy it. People die of SUDEP without having an obvious seizure, and epilepsy patients can have breathing problems in the absence of seizures.


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Materials provided by University of Connecticut. Note: Content may be edited for style and length.


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