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Article

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Brain : a journal of neurology - 1 May 2014

Mills Philippa B, Camuzeaux Stephane S M, Footitt Emma J, Mills Kevin A, Gissen Paul, Fisher Laura, Das Krishna B, Varadkar Sophia M, Zuberi Sameer, McWilliam Robert, Stödberg Tommy, Plecko Barbara, Baumgartner Matthias R, Maier Oliver, Calvert Sophie, Riney Kate, Wolf Nicole I, Livingston John H, Bala Pronab, Morel Chantal F, Feillet François, Raimondi Francesco, Del Giudice Ennio, Chong W Kling, Pitt Matthew, Clayton Peter T

Abstract excerpt

The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-pho...

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Source

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Identifiers

PMID: 24645144
DOI: 10.1093/brain/awu051
PMCID: PMC3999720

Genes

PNPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24645144-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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