TY - JOUR
T1 - New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies
AU - Pearl, Phillip L.
AU - Tokatly Latzer, Itay
AU - Lee, Henry H.C.
AU - Rotenberg, Alexander
N1 - Publisher Copyright:
© American Academy of Neurology.
PY - 2023/7/18
Y1 - 2023/7/18
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85165223076&partnerID=8YFLogxK
U2 - 10.1212/WNL.0000000000207133
DO - 10.1212/WNL.0000000000207133
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C2 - 36878704
AN - SCOPUS:85165223076
SN - 0028-3878
VL - 101
SP - 124
EP - 133
JO - Neurology
JF - Neurology
IS - 3
ER -