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Article

Congenital cataract in a child with pyridoxine-dependent epilepsy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2013

Yusuf Imran H, Sandford Victoria, Hildebrand Göran Darius

Abstract excerpt

Pyridoxine-dependent epilepsy (PDE) is a cause of neonatal epileptic encephalopathy not previously known to cause ophthalmic disease. We describe the novel observation of a 5-year-old girl with pyridoxine-dependent epilepsy and bilateral cataracts. PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress. Accumulating metabolic...

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Identifiers

PMID: 23602455
DOI: 10.1016/j.jaapos.2013.01.006

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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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