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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. EIEE55 is an autosomal recessive condition.

Acronym

EIEE55

Synonyms

Glycosylphosphatidylinositol biosynthesis defect 14
GPIBD14

Keywords

Epilepsy