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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-04-2019
Symbol EIEE71
Location 2q32.2
Name epileptic encephalopathy, early infantile, 71
Corresponding gene GLS
Main clinical features
  • severe hypotonia and respiratory insufficiency requiring mechanical ventilation; early-onset refractory seizures associated with a burst-suppression pattern on EEG
  • brain imaging showed a simplified frontal gyral pattern with an anterior-to-posterior gradient and deep and subcortical white matter involvement
  • early death
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease