Innovator Award, Funded by the Rock the Block for Pediatric Epilepsy Research Award

Autophagy Defect In Epilepsy

J. Marie Hardwick, PhD
Johns Hopkins University

New information about the specific causes of epilepsy is paramount to make progress against these devastating disorders. Using yeast genetics as a tool to find new regulators of cell death, we identified an uncharacterized yeast gene with homology to a human gene mutated in children with a form of intractable epilepsy. However, there is no information about the function of this human gene. By generating an animal model of this new epilepsy syndrome, we seek to translate our unique information from yeast to explain a new cause of epilepsy and to provide a model for testing new therapies.


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