{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Jiao X"],"pubmed_abstract":["<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 "],"journal":["Frontiers in genetics"],"pagination":["804461"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9039010"],"repository":["biostudies-literature"],"pubmed_title":["A Rare Presentation Characterized by Epileptic Spasms in <i>ALDH7A1</i>, Pyridox(am)ine-5'-Phosphate Oxidase, and <i>PLPBP</i> Deficiency."],"pmcid":["PMC9039010"],"pubmed_authors":["Yang Z","Gong P","Zhang Y","Jiao X","Niu Y"],"additional_accession":[]},"is_claimable":false,"name":"A Rare Presentation Characterized by Epileptic Spasms in <i>ALDH7A1</i>, Pyridox(am)ine-5'-Phosphate Oxidase, and <i>PLPBP</i> Deficiency.","description":"<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 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-20T00:16:53.43Z","creation":"2025-02-19T01:53:43.584Z"},"accession":"S-EPMC9039010","cross_references":{"pubmed":["35495162"],"doi":["10.3389/fgene.2022.804461"]}}