Early Infantile Epileptic Encephalopathy


Disease Overview

Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs).[2510] Episodes may occur more than a hundred times per day.[12439] Most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies.[2510][12439] Some cases are caused by metabolic disorders or by mutations in several different genes. The cause for many cases can’t be determined. There are several types of early infantile epileptic encephalopathy.[12438] The EEGs reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as “burst suppression.” The seizures associated with this disease are difficult to treat and the syndrome is severely progressive.[2510] Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.[2510][12438] 

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National Organization for Rare Disorders