Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

Pediatric neurology - 1 Jun 2016

van Karnebeek Clara D M, Tiebout Sylvia A, Niermeijer Jikkemien, Poll-The Bwee Tien, Ghani Aisha, Coughlin Curtis R, Van Hove Johan L K, Richter Jost Wigand, Christen Hans Juergen, Gallagher Renata, Hartmann Hans, Stockler-Ipsiroglu Sylvia

Abstract excerpt

BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6' carboxylate and pipecolic acid. Beside neonatal refractory...

Topics

Epilepsy
Humans
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26995068
DOI: 10.1016/j.pediatrneurol.2015.12.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.PMID 26995068Read ↗

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

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.Semantic proximity Read ↗

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.Semantic proximity Read ↗

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria.Semantic proximity Read ↗

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.Semantic proximity Read ↗

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.Semantic proximity Read ↗

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutationSemantic proximity Read ↗

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

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutationsSemantic proximity Read ↗

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.Semantic proximity Read ↗

Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.Semantic proximity Read ↗

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.