/neonatal-onset encephalopathy with rigidity and seizures

neonatal-onset encephalopathy with rigidity and seizures

Rare Disease

MONDO:0013784

Also Known As

lethal neonatal rigidity-multifocal seizure syndromelethal neonatal spasticity-epileptic encephalopathy syndromeneonatal-onset encephalopathy with rigidity and seizuresRMFSLrigidity and multifocal seizure syndrome, lethal neonatal

Definition

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.