early-onset vitamin B6-dependent epilepsy 1

A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.

Signs and symptoms

• Global developmental delay
• Tonic seizure
• Secondary microcephaly
• Delayed speech and language development
• Irritability
• Bilateral tonic-clonic seizure
• Metabolic acidosis
• EEG with burst suppression
• Motor delay
• Increased circulating lactate concentration

Also known as: EPEO1; PDE-PLPBP