neonatal-onset encephalopathy with rigidity and seizures
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene.
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
RMFSL
related
lethal neonatal rigidity-multifocal seizure syndrome
exact
lethal neonatal spasticity-epileptic encephalopathy syndrome
exact
neonatal-onset encephalopathy with rigidity and seizures
exact
rigidity and multifocal seizure syndrome, lethal neonatal
related