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infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Disease Summary
Associated Targets ()
Mondo Description A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
Mondo Term and Equivalent IDs
MONDO:0018314: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:391316
UMLS:CN204956
MONDO:0018314
High level summary of knowledge for a disease, including descriptions and datasource references.