infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
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:0015653
monogenic epilepsy
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MONDO:0020071
infantile epilepsy syndrome
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