Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children - Report - MDSpire

Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children

  • By

  • Ružica Kravljanac

  • Biljana Vučetić Tadić

  • Vladimir Oparnica

  • July 13, 2026

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Clinical Report: Pyridoxine-Responsive Epilepsies in Children

Overview

This study evaluates the etiology, phenotype, and long-term outcomes of 21 children with pyridoxine-responsive seizures. It highlights the overlap between pyridoxine-dependent epilepsy and pyridoxine-responsive epilepsy.

Background

Pyridoxine-responsive seizures are characterized by early-onset seizures that respond to pyridoxine, encompassing a range of etiologies. The study aims to clarify the predictors of outcomes in children with these types of seizures.

Data Highlights

ParameterPDE (n=10)PRE (n=11)
Median age at seizure onset (days)2 (1–11)2 (1–11)
Median time to pyridoxine treatment (days)12 (1–61)10 (1–98)
Seizure freedom8/10 (80%)8/11 (72.7%)
Developmental delay6/10 (60%)5/11 (45.5%)
MRI abnormalities8/10 (80%)7/11 (63.6%)

Key Findings

  • The median age at seizure onset was 2 days for both PDE and PRE groups.
  • Seizure freedom was achieved in 80% of PDE patients and 72.7% of PRE patients.
  • Developmental delay was observed in 60% of PDE patients and 45.5% of PRE patients.
  • MRI abnormalities were present in 80% of PDE patients and 63.6% of PRE patients.
  • There was no significant difference in the time to pyridoxine treatment between the two groups.

Clinical Implications

Clinicians should consider the variability in outcomes among children with pyridoxine-responsive seizures.

Conclusion

The study highlights the phenotypic overlap between pyridoxine-dependent and pyridoxine-responsive epilepsies.

Related Resources & Content

  1. Frontiers in Pediatrics, 2026 -- Clinical and genetic analysis of PRRT2 gene mutations in a cohort of 21 pediatric patients: a case series
  2. Brain, 2026 -- Understanding the Molecular Mechanisms of KCNH1-Associated Epileptic Encephalopathy and the Challenges in Developing Targeted Treatments
  3. Phoenix Children's Medical Connection -- The Future of Pediatric Epilepsy Surgery Through a Genetic Lens
  4. ILAE Guidelines, 2023 -- Neonatal Seizures
  5. Pyridoxine-Dependent Epilepsy – ALDH7A1 - GeneReviews® - NCBI Bookshelf
  6. barnes-jewish — Introduction to Pediatric Epilepsy Syndromes and Common Epilepsy Mimics
  7. https://www.ilae.org/files/dmfile/ilae-neonatal-guidelines.pdf
  8. Pyridoxine-Dependent Epilepsy – ALDH7A1 - GeneReviews® - NCBI Bookshelf
  9. Pyridoxine-Dependent Epilepsy – ALDH7A1

Original Source(s)

Pyridoxine-dependent and other pyridoxine-responsive epilepsies—insights into phenotype overlapping and the long-term outcome in a cohort of 21 children

  • by Ružica Kravljanac, Biljana Vučetić Tadić, Vladimir Oparnica

  • July 13, 2026

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