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expandinfantile epilepsy syndrome (MONDO:0020071)
Parent Node:
expandmonogenic disease with epilepsy (MONDO:0015653)
..Starting node
..expandinfantile-onset mesial temporal lobe epilepsy with severe cognitive regression ()

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..expandARX-related epileptic encephalopathy ()
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..expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
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..expandglobal developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ()
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..expandinfantile-onset mesial temporal lobe epilepsy with severe cognitive regression ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18314
Name:infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Definition:Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is 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.
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