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...

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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2019
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6850975/
https://ncbi.nlm.nih.gov/pubmed/31741821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12063
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