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Article

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.

Genetics and molecular research : GMR - 30 Oct 2015

Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, Shotelersuk V

Abstract excerpt

Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO). Neonatal onset seizures in PLP responsive epilepsy are usually resistant to common anticonvulsants and pyridoxine, but respond to PLP. Various PNPO mutations are associated with this disorder. In this report, we have described a case of a female baby...

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Source

Identifiers

PMID: 26535729
DOI: 10.4238/2015.October.29.34

Genes

PNPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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