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Article

Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.

Metabolic brain disease - 1 Dec 2022

İpek Rojan, Çavdartepe Büşra Eser, Kor Deniz, Okuyaz Çetin

Abstract excerpt

Seizures in newborn infants may be the first finding of hereditary metabolic diseases. Pyridoxine-dependent epilepsy (PDE) is a treatable disorder associated with defects in the one of ALDH7A1, PNPO, or PLPBP genes and it is uncommon but progresses with persistent seizures in the neonatal and infancy period. The seizures are generally resistant to traditional antiepileptic drugs and show a dramatic response to...

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PMID: 36308585
DOI: 10.1007/s11011-022-01085-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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