Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. Recently, biallelic mutations in PLPBP were shown to be a novel cause of vitami...

Descripción completa

Detalles Bibliográficos
Autores principales: Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850975/
https://www.ncbi.nlm.nih.gov/pubmed/31741821
http://dx.doi.org/10.1002/jmd2.12063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850975/
https://www.ncbi.nlm.nih.gov/pubmed/31741821
http://dx.doi.org/10.1002/jmd2.12063

Ejemplares similares