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GENATLAS PHENOTYPE
last update : 19-05-2015
Symbol MAES
Location 3p25.3
Name myoclonic-astatic epilepsy syndrome
Other name(s) Doose syndrome
Corresponding gene SLC6A1
Main clinical features
  • multiple seizure types and developmental delay or regression, associated with abundant epileptiform activity, which contributes to cognitive impairment
  • Genetic determination not applicable
    Function/system disorder neurology
    Type disease
    Remark(s)