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GENATLAS PHENOTYPE
last update : 12-11-2020
Symbol EIEE91
Location 6q15
Name epileptic encephalopathy, early infantile, 91
Corresponding gene RARS2
Main clinical features
  • in the first year of life with frequent seizures and/or prominent interictal epileptiform discharges on the electroencephalogram, developmental delay or regression and usually a poor prognosis
  • profound global developmental delay and post-natal microcephaly
  • neuro-imaging disclosed non-specific progressive cerebral atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)