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Article

Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.

Developmental medicine and child neurology - 1 Apr 2007

Rankin Peter M, Harrison Sue, Chong W K, Boyd Stewart, Aylett Sarah E

Abstract excerpt

The neuropsychological and clinical histories of three male siblings affected by pyridoxine-dependent seizures with known homozygous antiquitin mutations are presented. Neuropsychological evaluation is reported from when the siblings were 11, 9, and 7 years of age. Two of the siblings had receive...

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Identifiers

PMID: 17376142
DOI: 10.1111/j.1469-8749.2007.00300.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17376142-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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