early-onset vitamin B6-dependent epilepsy 4

A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Elevated circulating pipecolic acid concentration
• Clonic seizure
• Delayed speech and language development
• EEG with burst suppression
• Neonatal respiratory distress
• Prenatal movement abnormality
• Hypotonia
• Strabismus
• Generalized myoclonic seizure

Also known as: AASA dehydrogenase deficiency; EPEO4; PDE-ALDH7A1; antiquitin deficiency