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Article

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.

Annals of neurology - 1 May 2009

Gallagher Renata C, Van Hove Johan L K, Scharer Gunter, Hyland Keith, Plecko Barbara, Waters Paula J, Mercimek-Mahmutoglu Saadet, Stockler-Ipsiroglu Sylvia, Salomons Gajja S, Rosenberg Efraim H, Struys Eduard A, Jakobs Cornelis

Abstract excerpt

OBJECTIVE: Folinic acid-responsive seizures and pyridoxine-dependent epilepsy are two treatable causes of neonatal epileptic encephalopathy. The former is diagnosed by characteristic peaks on cerebrospinal fluid (CSF) monoamine metabolite analysis; its genetic basis has remained elusive. The latter is due to alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency, associated with pathogenic mutations...

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Identifiers

PMID: 19142996
DOI: 10.1002/ana.21568

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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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