Articles with "pyridoxine lrts" as a keyword



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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

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Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000201222

Abstract: Background and Objectives Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies (LRTs) reduce the accumulation of putative neurotoxic metabolites with the goal to improve… read more here.

Keywords: dependent epilepsy; pyridoxine lrts; treatment; developmental testing ... See more keywords