Juvenile myoclonic epilepsy-Overview: clinical features

초록

Juvenile myoclonic epilepsy (JME) is a common idiopathic epilepsy syndrome affecting up to 10% of all patients with epilepsy. This is a genetically determined syndrome, however, the pathophysiology has not been clearly defined so far. Typically presenting in the early teenage years, JME is characterized by myoclonic jerks, generalized tonic clonic seizures (GTCS) in nearly all patients, and typical absences in more than a third of patients. Myoclonic jerks and GTCS usually occur in the early morning while the patient is awakening. Absence seizures rarely show a circadian prediction. Sleep deprivation, fatigue, excessive alcohol intake, and menstruation in women are the most common precipitants of seizures in JME. Although photosensitivity is confirmed by electroencephalography in more than 30% of patients, this may be of no clinical significance. Other seizure-precipitating factors include mental stress and emotions, in particular excitement, concentration, mental and psychological arousal, failed expectations or frustration. Personality, behavioral, cognitive and psychological aberrations have been frequently reported in patients with JME.