neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy
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.
MONDO:0100022
neonatal/infantile epilepsy syndrome
is_a
NIE-SDE
exact
SPCC1682.09c SPAC22F8.11 SPAC22H10.04 SPAC1B3.04c