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

Internet

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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