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Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

MedGen UID:
1654958
•Concept ID:
C4750853
•
Disease or Syndrome
Synonym: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
SNOMED CT: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (773421009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018314
Orphanet: ORPHA391316

Definition

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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile-onset mesial temporal lobe epilepsy with severe cognitive regression

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