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Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

Epilepsy & behavior : E&B - 1 Mar 2011

Veerapandiyan Aravindhan, Winchester Sara A, Gallentine William B, Smith Edward C, Kansagra Sujay, Hyland Keith, Mikati Mohamad A

Abstract excerpt

We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene...

Topics

Child, Preschool
Electroencephalography
Epilepsy
Humans
Infant
Male
Mutation
Pyridoxal Phosphate

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21292558
DOI: 10.1016/j.yebeh.2010.12.046

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

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