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A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency

Objective: 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 ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency, and PLPBP deficiency. Methods...

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Detalles Bibliográficos
Autores principales:	Jiao, Xianru, Gong, Pan, Niu, Yue, Zhang, Yuehua, Yang, Zhixian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039010/ https://www.ncbi.nlm.nih.gov/pubmed/35495162 http://dx.doi.org/10.3389/fgene.2022.804461

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