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.
is essential for understanding the complex pathophysiology of this condition and identifying therapeutic targets."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.
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 activity. Their goal was to gather baseline information about the animals' health, as well as to observe how these functions change during naturally occurring seizures.
The researchers also found breathing irregularities during nonfatal seizures, and even in the animals' baseline breathing rates. The team believes these results point to a defect in the brain's breathing control circuit that makes the animals more vulnerable during seizures, which could contribute to the increased rate of SUDEP in DEPDC5-related epilepsy.
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