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developmental and epileptic encephalopathy, 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.
Uniprot Description A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state.
Mondo Term and Equivalent IDs
MONDO:0012245: developmental and epileptic encephalopathy, 3
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080440
OMIM:609304
MONDO:0012245
High level summary of knowledge for a disease, including descriptions and datasource references.