New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies

Phillip L. Pearl*, Itay Tokatly Latzer, Henry H.C. Lee, Alexander Rotenberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)124-133
Number of pages10
Issue number3
StatePublished - 18 Jul 2023
Externally publishedYes


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