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Dravet syndrome

Disease definition

A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.

ORPHA:33069

Classification level: Disorder
  • Synonym(s):
    • SMEI
    • Severe myoclonic epilepsy of infancy
    • Severe myoclonus epilepsy of infancy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G40.4
  • OMIM: 607208  612164  615744
  • UMLS: C0751122
  • MeSH: -
  • GARD: 10430
  • MedDRA: -

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