Bottino, Marina; Boyer, Monica; Steenari, Maija R.; Barrick, Rebekah; Abdenur, Jose E.
(Elsevier, 2025-10-10)
Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to ...