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

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

Indian pediatrics - 1 May 2025

Gowda Vykuntaraju K, Gowda Prafful, Srinivasan Varunvenkat M, Kinhal Udhav, Vegda Hemadri, Reddy Viveka-Santhosh

Abstract excerpt

OBJECTIVE: To describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE). METHODS: Retrospective chart reviews of all children with a genetically confirmed diagnosis of PDE between April 2012 and March 2024 were included; clinical and laboratory data were analyzed. RESULTS: Twenty-two children (13 boys) were diagnosed with PDE and all presented with seizures...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

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

Share to Epilepsy

Share to Genotype

Share to Infant

Source

Identifiers

PMID: 40172593
DOI: 10.1007/s13312-025-00061-1

Genes

ALDH7A1
PLPBP
PNPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 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

Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.PMID 40172593Read ↗

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

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

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

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

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

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

Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.Semantic proximity Read ↗

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

Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus.Semantic proximity Read ↗

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

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.Semantic proximity Read ↗

[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].Semantic proximity Read ↗

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