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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-05-2017
Location 7q21.12
Name encephalopathy with epilepsy and cortical atrophy
Other name(s) epileptic encephalopathy, early infantile, 61
Corresponding gene ADAM22
Other symbol(s) EIEE61
Main clinical features
  • characterized by unusually rapidly progressing cortical atrophy starting at 3-4 months of age
  • rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability
  • Genetic determination not applicable
    Function/system disorder neurology
    Type disease
    Remark(s) . mutations identified abolish the LGI1-ADAM22 ligand-receptor complex and are thus a likely primary cause of the proband's epilepsy syndrome (PMID: 27066583))