Abstract
Treatment options for inherited metabolic epilepsies are rapidly expanding with advances in molecular biology and the genomic revolution. Traditional dietary and nutrient modification, and inhibitors or enhancers of protein and enzyme function, the mainstays of therapy, are undergoing continuous revisions to increase biological activity and reduce toxicity. Enzyme replacement, and gene replacement and editing hold promise for genetically targeted treatment and cures. Molecular, imaging and neurophysiologic biomarkers are emerging as key indicators of disease pathophysiology, severity, and response to therapy.
- Received July 25, 2022.
- Accepted in final form January 17, 2023.
- © 2023 American Academy of Neurology
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