Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 16-09-2020
Symbol EIEE85
Location Xp11.22
Name epileptic encephalopathy, early infantile, 85, with or without midline brain defects
Corresponding gene SMC1A
Main clinical features
  • neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features
  • seizures tend to show a cyclic pattern with clustering
  • frequent midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)