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Article

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Human molecular genetics - 15 Apr 2005

Mills Philippa B, Surtees Robert A H, Champion Michael P, Beesley Clare E, Dalton Neil, Scambler Peter J, Heales Simon J R, Briddon Anthony, Scheimberg Irene, Hoffmann Georg F, Zschocke Johannes, Clayton Peter T

Abstract excerpt

In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis of pyridoxal 5'-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results in epilepsy. This study of five patients with neonatal epileptic encephalopathy suggests that the same is true in man. Cerebrospinal fluid and urine analyses indicated reduced activity of aromatic L-amino acid decarboxylase and other...

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Identifiers

PMID: 15772097
DOI: 10.1093/hmg/ddi120

Genes

PNPO

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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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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.PMID 15772097Read ↗

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Pyridoxine responsiveness in novel mutations of the PNPO gene.Semantic proximity Read ↗

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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutationSemantic proximity Read ↗

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