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Article

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Molecular genetics and metabolism - 1 Apr 2012

Milh Mathieu, Pop Ana, Kanhai Warsha, Villeneuve Nathalie, Cano Aline, Struys Eduard A, Salomons Gajja S, Chabrol Brigitte, Jakobs Cornelis

Abstract excerpt

We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a pseudoexon, and the minor transcript representing the authentic...

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Identifiers

PMID: 22305855
DOI: 10.1016/j.ymgme.2012.01.011

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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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