Discover Community Create You

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

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.

Epilepsy research - 1 May 2024

Fang Chuchu, Yang Lin, Xiao Feifan, Yan Kai, Zhou Wenhao

Abstract excerpt

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a rare autosomal recessive disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase. This study aimed to systematically explore genotypic and phenotypic features and prognostic factors of neonatal-onset PDE. A literature search covering PubMed, Elsevier, and Web of Science was conducted from January 2006 to August 2023. We identified 56 eligible...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aldehyde Dehydrogenase
Share to Epilepsy
Share to Genotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Phenotype

Share to Prognosis

Share to Pyridoxine

Share to Seizures

Source

Identifiers

PMID: 38636407
DOI: 10.1016/j.eplepsyres.2024.107363

Genes

ALDH7A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.PMID 38636407Read ↗

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

Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.Semantic proximity Read ↗

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

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

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

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

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

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

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].Semantic proximity Read ↗

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.Semantic proximity Read ↗

A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.Semantic proximity Read ↗

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

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