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developmental and epileptic encephalopathy, 15

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome.
Mondo Term and Equivalent IDs
MONDO:0014003:  developmental and epileptic encephalopathy, 15
UMLS:C3554316: