Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed by...

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Detalles Bibliográficos
Autores principales: Yang, Zhixian, Yang, Xiaoling, Wu, Ye, Wang, Jingmin, Zhang, Yuehua, Xiong, Hui, Jiang, Yuwu, Qin, Jiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963937/
https://www.ncbi.nlm.nih.gov/pubmed/24664145
http://dx.doi.org/10.1371/journal.pone.0092803

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963937/
https://www.ncbi.nlm.nih.gov/pubmed/24664145
http://dx.doi.org/10.1371/journal.pone.0092803

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