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epileptic encephalopathy, infantile or early childhood, 3

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description 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. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non-ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0020632:  epileptic encephalopathy, infantile or early childhood, 3
UMLS:CN248521: