Neurophysiology of juvenile myoclonic epilepsy

Anna Serafini, Guido Rubboli, Gian Luigi Gigli, Michalis Koutroumanidis, Philippe Gelisse

Research output: Contribution to journalArticle

Abstract

Juvenile myclonic epilepsy (JME) can be firmly diagnosed by a careful interview of the patient focusing on the seizures and by the EEG with the help, if necessary, of long-term video-EEG monitoring using sleep and/or sleep deprivation. Background activity is normal. The interictal EEG shows diffuse or generalized spike-wave (SW) and polyspike-wave (PSW) discharges. In some patients, non-specific changes or misleading features such as focal changes are found. Changes are mostly seen at sleep onset and at awakening. Provoked awakenings are more likely to activate interictal paroxysmal abnormalities than spontaneous awakenings. The presence of a photoparoxysmal response with or without myoclonic jerks (MJ) is common (30% of the cases). Myoclonic jerks are associated with a discharge of fast, irregular, generalized PSWs that predominate anteriorly. Myoclonic jerks appear to be associated with rhythmic EEG (spike) potentials at around 20. Hz. These frequencies are in the range of movement-related fast sensorimotor cortex physiological rhythms. The application of jerk-locked averaging technique has provided findings consistent with a cortical origin of MJ. Paired TMS (transcranial magnetic stimulation) studies showed a defective intracortical inhibition, due to impaired GABA-A mediated mechanisms. In this review, we present the EEG characteristics of JME with particular emphasis on the pathophysiology of MJ and on the role of sleep deprivation on interictal and ictal changes.

Original languageEnglish
JournalEpilepsy and Behavior
Volume28
Issue number1
DOIs
Publication statusPublished - Jul 2013

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Keywords

  • EEG
  • Juvenile myoclonic epilepsy
  • Myoclonic jerks
  • Neurophysiology
  • Sleep
  • Sleep deprivation

ASJC Scopus subject areas

  • Clinical Neurology
  • Behavioral Neuroscience
  • Neurology

Cite this

Serafini, A., Rubboli, G., Gigli, G. L., Koutroumanidis, M., & Gelisse, P. (2013). Neurophysiology of juvenile myoclonic epilepsy. Epilepsy and Behavior, 28(1). https://doi.org/10.1016/j.yebeh.2012.11.042