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

Internet

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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