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GENATLAS PHENOTYPE
last update : 12-06-2018
Symbol EIEE66
Location 14q32.33
Name epileptic encephalopathy, early infantile, 66
Corresponding gene PACS2
Main clinical features
  • developmental delay/ID, and variably epilepsy, speech delay, dysmorphic facial appearance, and neonatal seizures appear a consistent feature in individuals with the recurrent PACS2 variant
  • brain MRI demonstrated dysgenesis of the cerebellar folia, mega cisterna magna and inferior vermian hypoplasia
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)
  • p.Glu209Lys mutation may alter a putative regulatory domain that alters binding of PACS2 to one or more client proteins critical for neuron communication, neurogenesis, or cerebellar development (PMID: 29656858))