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Definition

A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.

Acronym

EIEE39

Synonyms

AGC1 deficiency
Aspartate-glutamate carrier 1 deficiency
Global cerebral hypomyelination
Hypomyelination, global cerebral