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Early myoclonic encephalopathy

Disease definition

Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.

ORPHA:1935

  • Synonym(s):
    • Early myoclonic encephalopathy with suppression-bursts
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G40.4
  • OMIM: 609304  616341  617105
  • UMLS: C0270855
  • MeSH: -
  • GARD: -
  • MedDRA: -
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