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Article

Variability of phenotype in two sisters with pyridoxine dependent epilepsy.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Jul 2012

Alfadhel Majid, Sirrs Sandra, Waters Paula J, Szeitz András, Struys Eduard, Coulter-Mackie Marion, Stockler-Ipsiroglu Sylvia

Abstract excerpt

BACKGROUND: Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B6. Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause. CASE REPORT: In 21 and 23 year-old sisters, who had presented with neonatal / early infantile onset...

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Identifiers

PMID: 22728861
DOI: 10.1017/s0317167100014050

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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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