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Juvenile absence epilepsy

Orpha number ORPHA1941
Synonym(s) JAE
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Multigenic/multifactorial
Age of onset Childhood
ICD-10
  • G40.3
ICD-O -
OMIM
UMLS
  • C2930918
MeSH
  • C535495
MedDRA -
SNOMED CT
  • 230413002

Summary

Juvenile absence epilepsy (JAE) is one of the age-related idiopathic generalized epilepsies (IGE) that accounts for approximately 10% of all epilepsies. Age at onset is usually near or around puberty, between 10 and 17 years of age, in young people with normal neurologic examination. Its clinical features are characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity. Hereditary factors play a major role in the etiology of JAE. Sodium Valproate is the first choice anti-epileptic medication, controlling both absences and tonic-clonic seizures.

Expert reviewer(s)

  • Emmanuel HIRSCH
  • Dr Gabrielle RUDOLF
  • Dr M VALENTI

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