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

doi:10.1007/s13312-025-00061-1

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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...

Topics

Humans
Male
India
Female
Epilepsy
Retrospective Studies
Child
Child, Preschool
Genotype
Infant

Source

Open in PubMed

Identifiers

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

Genes

ALDH7A1
PLPBP
PNPO

Provenance

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

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