biostudies-literatureUnknown13Jiao X<b>Objective:</b> To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6-dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by <i>ALDH7A1</i> mutation, pyridox(am)ine-5'-phosphate oxidase (<i>PNPO</i>) deficiency, and <i>PLPBP</i> deficiency. <b>Methods:</b> We analyzed data from a cohort of 54 cases with PDE, 13 cases with <i>PNPO</i> deficiency, and 2 cases with <i>PLPBP</i> deficiency and looked for the presentation of ES among them. <b>Results:</b> A total of 11 patients with the seizure presentation of ES have been collected. Among them, four patients carried mutations in <i>ALDH7A1</i>, six carried mutations in <i>PNPO</i>, and the remaining one carried mutation in <i>PLPBP</i>. The analysis of this cohort Frontiers in genetics804461https://www.ebi.ac.uk/biostudies/studies/S-EPMC9039010biostudies-literatureA Rare Presentation Characterized by Epileptic Spasms in <i>ALDH7A1</i>, Pyridox(am)ine-5'-Phosphate Oxidase, and <i>PLPBP</i> Deficiency.PMC9039010Yang ZGong PZhang YJiao XNiu YfalseA Rare Presentation Characterized by Epileptic Spasms in <i>ALDH7A1</i>, Pyridox(am)ine-5'-Phosphate Oxidase, and <i>PLPBP</i> Deficiency.<b>Objective:</b> To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6-dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by <i>ALDH7A1</i> mutation, pyridox(am)ine-5'-phosphate oxidase (<i>PNPO</i>) deficiency, and <i>PLPBP</i> deficiency. <b>Methods:</b> We analyzed data from a cohort of 54 cases with PDE, 13 cases with <i>PNPO</i> deficiency, and 2 cases with <i>PLPBP</i> deficiency and looked for the presentation of ES among them. <b>Results:</b> A total of 11 patients with the seizure presentation of ES have been collected. Among them, four patients carried mutations in <i>ALDH7A1</i>, six carried mutations in <i>PNPO</i>, and the remaining one carried mutation in <i>PLPBP</i>. The analysis of this cohort 2022-01-01T00:00:00Z20222025-04-20T00:16:53.43Z2025-02-19T01:53:43.584ZS-EPMC90390103549516210.3389/fgene.2022.804461