Orphanet: Myoclonic epilepsy of infancy
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Myoclonic epilepsy of infancy

Disease definition

A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.

ORPHA:86909

Classification level: Disorder
  • Synonym(s):
    • Benign myoclonic epilepsy of infancy
    • Benign myoclonus epilepsy of infancy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G40.3
  • OMIM: -
  • UMLS: C0751120  C0917800
  • MeSH: -
  • GARD: -
  • MedDRA: -
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