Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Curtis R CoughlinLaura A TsengLevinus A BokHans HartmannEmma FootittPasquale StrianoBrahim M TabarkiRoelineke J LunsingSylvia Stockler-IpsirogluShanlea GordonJohan L K Van HoveJose E AbdenurMonica BoyerNicola LongoAshley AndrewsMirian Ch JanssenAnnemiek M J van WegbergChitra PrasadAsuri Narayan PrasadMolly M LambFrits A WijburgSidney M GospeClara van Karnebeeknull nullPublished in: Neurology (2022)
This study provides Class IV evidence that in PDE-ALDH7A1, pyridoxine plus lysine reduction therapies compared to pyridoxine alone is not significantly associated with overall higher developmental testing scores, but treatment in the first six months of life is associated with significantly higher developmental testing scores.