Juvenile myoclonic epilepsy

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Disease Overview

Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children.[915][917][10961] The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.[915][917]


Synonyms

  • Petit mal, impulsive
  • JME
  • EJM
  • Janz syndrome
  • Myoclonic epilepsy, juvenile, 1

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National Organization for Rare Disorders