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Article

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Epileptic disorders : international epilepsy journal with videotape - 1 Dec 2013

Oliveira Renata, Pereira Cristina, Rodrigues Fidjy, Alfaite Claudia, Garcia Paula, Robalo Conceição, Fineza Isabel, Gonçalves Olavo, Struys Eduard, Salomons Gajja, Jakobs Cornelis, Diogo Luísa

Abstract excerpt

We report 4 pyridoxine-dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine-dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and...

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Identifiers

PMID: 24184718
DOI: 10.1684/epd.2013.0610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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