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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:JIMD Reports
Subjects:
neonatal seizures
PLPBP
PLPHP
PROSC
pyridoxine
vitamin B6‐dependent epilepsy
Online Access:https://doi.org/10.1002/jmd2.12063

Internet

https://doi.org/10.1002/jmd2.12063

Similar Items