Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

Abstract Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in...

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Bibliographic Details
Main Authors: Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:JIMD Reports
Subjects:
PLPBP
PLPHP
prematurity
PROSC
pyridoxal‐5′‐phosphate
pyridoxine
Online Access:https://doi.org/10.1002/jmd2.12183

Internet

https://doi.org/10.1002/jmd2.12183

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