Utility and limitations of EEG in the diagnosis and management of -related pyridoxine-dependent epilepsy. A retrospective observational study.

Purpose: Pyridoxine-dependent epilepsy due to variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures. We have explored the role of EEG in the diagnosis and management of PDE.

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.

Background: Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants. While anti-seizure medications are ineffective, pyridoxine provides seizure control, and dietary interventions may be of benefit.