You are using an outdated browser. Please upgrade your browser to improve your experience.
developmental and epileptic encephalopathy, 11
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.
Uniprot Description An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
Disease Ontology Description An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
Mondo Term and Equivalent IDs
MONDO:0013388: developmental and epileptic encephalopathy, 11
Download Data for developmental and epileptic encephalopathy, 11
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080421
OMIM:613721
UMLS:C3150987
MONDO:0013388
High level summary of knowledge for a disease, including descriptions and datasource references.