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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2019
Fag:
Case Report
Online adgang: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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