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Article

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.

Epilepsia - 1 Apr 2009

Striano Pasquale, Battaglia Silvia, Giordano Lucio, Capovilla Giuseppe, Beccaria Francesca, Struys Eduard A, Salomons Gajja S, Jakobs Cornelis

Abstract excerpt

Pyridoxine-dependent seizures (PDS) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. Patients are typically resistant to conventional anticonvulsants but respond well to the administration of pyridoxine. We report two unrelated patients affected with PDS as a result of alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency caused by pathogenic...

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Identifiers

PMID: 18717709
DOI: 10.1111/j.1528-1167.2008.01741.x

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

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Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.PMID 18717709Read ↗

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