New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies
Phillip L. Pearl, Itay Tokatly Latzer, Henry H.C. Lee, Alexander Rotenberg
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.
Topics & Concepts
Enzyme replacement therapyDiseaseMedicineBioinformaticsBiologyIntensive care medicineComputational biologyNeuroscienceInternal medicineMetabolism and Genetic DisordersMitochondrial Function and PathologyDiet and metabolism studies