Neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy

Definition

A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments.

Also known as NIE-SDE — per MONDO