label: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
label_lc: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
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."