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developmental and epileptic encephalopathy, 35

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. EIEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood.
Disease Ontology Description An early infantile epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
Mondo Term and Equivalent IDs
MONDO:0014719:  developmental and epileptic encephalopathy, 35
Orphanet:457375: 
UMLS:C4225256: