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Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency

OBJECTIVE: To describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype relationship. METHODS: Clinical and genetics data...

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Detalles Bibliográficos
Autores principales:	Jiao, Xianru, Gong, Pan, Wu, Ye, Zhang, Yuehua, Yang, Zhixian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8047191/ https://www.ncbi.nlm.nih.gov/pubmed/33868381 http://dx.doi.org/10.3389/fgene.2021.644447

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