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Updated: Jan 17, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting

Andika Priamas Nugrahanto1, Agung Triono2, Neti Nurani3

  • 1Division of Neurology, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.

Neurogenetics
|September 19, 2025
PubMed

Insights

Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder. Early diagnosis and treatment are vital, especially in resource-limited areas, as shown by the first confirmed Indonesian case.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Pyridoxine-dependent epilepsy (PDE) is a rare genetic metabolic disorder.
  • Seizures in PDE are often refractory to standard treatments but respond to pyridoxine.
  • Early diagnosis and treatment are critical for neurodevelopmental outcomes.

Keywords:
ALDH7A1Pyridoxine-dependent epilepsyResource-limited settingsWhole-exome sequencing

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