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Article

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

Developmental medicine and child neurology - 1 Jul 2010

Schmitt Bernhard, Baumgartner Matthias, Mills Philippa B, Clayton Peter T, Jakobs Cornelis, Keller Elmar, Wohlrab Gabriele

Abstract excerpt

AIM: We report on seizures, paroxysmal events, and electroencephalogram (EEG) findings in four female infants with pyridoxine-dependent epilepsy (PDE) and in one female with pyridoxine phosphate oxidase deficiency (PNPO). METHOD: Videos and EEGs were analysed and compared with videos of seizures and paroxysmal events archived from 140 neonates. PDE and PNPO were proven by complete control of seizures once...

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Identifiers

PMID: 20370816
DOI: 10.1111/j.1469-8749.2010.03660.x

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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