An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1. It classically presents as intractable infantile-onset seizures unresponsive to multiple antiepil...

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Detalles Bibliográficos
Autores principales: Kim, Jiyoung, Pipitone Dempsey, Angela, Kim, Sun Young, Gunay-Aygun, Meral, Vernon, Hilary J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448604/
https://www.ncbi.nlm.nih.gov/pubmed/36082373
http://dx.doi.org/10.1155/2022/7138435

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