infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
http://purl.obolibrary.org/obo/MONDO_0018314
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. [ Orphanet:391316 ]
Term info
- Orphanet:391316 (MONDO:equivalentTo)
- UMLS:CN204956 (MONDO:equivalentTo)
ordo_disease
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.
http://linkedlifedata.com/resource/umls/id/CN204956, http://purl.obolibrary.org/obo/Orphanet_391316
MONDO:0018314