Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability

Pyridoxine-dependent epilepsy (PDE) is a rare disorder caused by aldehyde dehydrogenase 7 family member A1 (ALDH7A1) deficiency. The present study reported on three Chinese cases of PDE with phenotypic variability for providing further insight into this disease. All three patients presented with rec...

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Detalles Bibliográficos
Autores principales: Wang, Sanmei, Sun, Jing, Tu, Yao, Zhu, Lina, Feng, Zhichun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609134/
https://www.ncbi.nlm.nih.gov/pubmed/28962114
http://dx.doi.org/10.3892/etm.2017.4735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609134/
https://www.ncbi.nlm.nih.gov/pubmed/28962114
http://dx.doi.org/10.3892/etm.2017.4735

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