Pyridoxal phosphate-responsive seizures

MONDO:0012407

A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

Also known as: PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, pyridox(am)ine 5’-phosphate oxidase deficiency, pyridoxal phosphate-dependent seizures, pyridoxamine 5'-phosphate oxidase deficiency, pyridoxine 5' phosphate oxidase deficiency, PNPOD, Pnpo deficiency

9 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Epilepsy (447) Nervous system disorder (243) Metabolic disease (241) Hereditary disease (188) Brain disorder (131) Central nervous system disorder (115) Inborn errors of metabolism (47) Human disease (15) Hereditary neurological disease (6)

Trials to join now! 5 Not yet finished but already full! 3 Completed 1

Routine EEGs may hold hidden clues to childhood epilepsy — a new analysis method is put to the test

Diagnosis Completed

This study is testing whether a computer tool called BioEP can detect signs of seizure susceptibility in standard EEG recordings from children with epilepsy. Researchers will analyze past EEGs from 530 children aged 2 to 18 who already have an epilepsy diagnosis. The goal is to s…

Sponsor: Neuronostics Ltd • Aim: Diagnosis

Last updated Aug 01, 2026 00:00 UTC

Pyridoxal phosphate-responsive seizures

Broader categories

Routine EEGs may hold hidden clues to childhood epilepsy — a new analysis method is put to the test