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.
Model organisms are an important tool for gaining insights into human health and disease that have significant implications for treating patients. By understanding how a genetic mutation alters activities within cells, or even communications between various systems in the body, researchers can uncover specific proteins to target with therapeutics, for example. To date, however, the field lacked an accurate animal model of DEPDC5-related epilepsy.
Peng Li, faculty member at the U-M Life Sciences Institute and assistant professor of molecular and integrative physiology at the U-M Medical SchoolIt starts with breath Once they determined that the animals were closely recapitulating the characteristics found in humans with DEPDC5-related epilepsy—including the type and frequency of seizures and the approximate age when SUDEP occurs on average—the researchers began to record data on their breathing patterns, cardiac function and neuronal...
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