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pyridoxine-dependent epilepsy

MeSH: C536254ORPHA: 3006

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

extremely rare disorder

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with pyridoxine-dependent epilepsy, sourced from HPO and Orphanet clinical annotations.

Lactic acidosisSeizureIrritabilityPrenatal movement abnormalityHypoplasia of the corpus callosumStatus epilepticusNeonatal respiratory distressFocal-onset seizureEEG with generalized slow activityEEG with burst suppressionEarly onset absence seizuresFeeding difficultiesNeurodevelopmental delayFocal aware motor seizureFetal distressLow APGAR scoreFacial grimacingAbnormality of eye movementRestlessnessIntellectual disabilityVentriculomegalyDelayed CNS myelinationEnlarged cisterna magnaHypsarrhythmiaAtonic seizureMultifocal epileptiform dischargesEpileptic spasmFocal myoclonic seizureEEG with generalized epileptiform dischargesEEG with generalized sharp slow wavesMeconium stained amniotic fluidBrain atrophyWidened subarachnoid spaceNeonatal asphyxiaHypoglycemia

Classification & Codes

MeSH Code

C536254

Orphanet Code

ORPHA:3006
pyridoxine-dependent epilepsy
MeSHC536254
OrphanetORPHA:3006
Treatments0 drug(s)
Symptoms on record35 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO