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Article

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Annals of neurology - 1 Oct 2007

Salomons Gajja S, Bok Levinus A, Struys Eduard A, Pope Lorna Landegge, Darmin Patricia S, Mills Philippa B, Clayton Peter T, Willemsen Michèl A, Jakobs Cornelis

Abstract excerpt

Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause pyridoxine-dependent epilepsy in a considerable number of patients. alpha-AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal-onset epileptic encephalopathy i...

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Identifiers

PMID: 17721876
DOI: 10.1002/ana.21206

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17721876-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).PMID 17721876Read ↗

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The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.Semantic proximity Read ↗

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.Semantic proximity Read ↗

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.Semantic proximity Read ↗

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutationSemantic proximity Read ↗

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.Semantic proximity Read ↗

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).Semantic proximity Read ↗

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.Semantic proximity Read ↗

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