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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-02-2024
Symbol EGI7
Location 9q21.13
Name epilepsy generalized idiopathic, 7
Corresponding gene RORB
Main clinical features
  • generalized, predominantly absence and myoclonic, and occipital seizures, median age at seizure onset was 3.5 years
  • all individuals with epilepsy were photosensitive, and any had cognitive abnormalities
  • also eyelid myoclonia with absences, intellectual disability, and attention deficit hyperactivity disorder (ADHD)
  • EEG showed generalized spike and wave and/or polyspike and wave
  • Genetic determination not applicable
    Function/system disorder neurology
    mental retardation
    Type disease