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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
Orphanet:391316: 
UMLS:CN204956: