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developmental and epileptic encephalopathy, 34
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.
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. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally.
Disease Ontology Description An early infantile epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
Mondo Term and Equivalent IDs
MONDO:0014718: developmental and epileptic encephalopathy, 34
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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:0080460
OMIM:616645
UMLS:C4225257
MONDO:0014718
High level summary of knowledge for a disease, including descriptions and datasource references.