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| Image Credit: geralt |
Researchers at the University of Michigan have developed a model for studying one type of familial epilepsy, opening the door to understanding—and eventually targeting—the mechanisms that lead to the disorder and its associated fatalities.
The research, published in the journal Annals of Neurology, has already revealed important insights into interactions between breathing, heart rate and brain activity during fatal seizures.
Mutations in a gene called DEPDC5 are a common cause of familial focal epilepsy and increase the risk of sudden unexpected death in epilepsy (SUDEP), a devastating consequence of epilepsy that ranks second only to stroke in potential life-years lost due to neurological diseases. But scientists have been unable to determine the underlying processes that lead to SUDEP in DEPDC5-related epilepsy.
“Without a clear understanding of the precise mechanisms that drive SUDEP, it is extremely difficult to predict its occurrence in patients,” said Yu Wang, associate professor of neurology at the U-M Medical School who also works with epilepsy patients at Michigan Medicine. “Having an accurate model that we can study at the molecular level is essential for understanding the complex pathophysiology of this condition and identifying therapeutic targets.”



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