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Article

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Epilepsia - 1 May 2009

Bennett Craig L, Chen Yingzhang, Hahn Sihoun, Glass Ian A, Gospe Sidney M

Abstract excerpt

PURPOSE: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal-onset PDS. METHODS: Bidirectional DNA sequence analysis of ALDH7A1 was undertaken...

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Source

Identifiers

PMID: 19128417
DOI: 10.1111/j.1528-1167.2008.01816.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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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