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Article

Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.

Brain & development - 1 Apr 2015

Tamaura Moe, Shimbo Hiroko, Iai Mizue, Yamashita Sumimasa, Osaka Hitoshi

Abstract excerpt

Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset and recurrent seizures that can be controlled by a high dose of pyridoxine. PDE is caused by mutations in ALDH7A1, which encodes antiquitin. Antiquitin converts α-aminoadipic semialdehyde to α-aminoadipic acid. Seizure recurrence after pyridoxine withdrawal is a criterion for diagnosis, but PDE can be diagnosed...

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PMID: 25123644
DOI: 10.1016/j.braindev.2014.07.008

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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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