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

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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Bibliographic Details
Main Authors: Xianru Jiao, Pan Gong, Yue Niu, Yuehua Zhang, Zhixian Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Genetics
Subjects:
epileptic spasm
ALDH7A1
pyridoxine-dependent epilepsy
pyridox(am)ine-5′-phosphate oxidase deficiency
PLPBP
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.804461/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.804461/full

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