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