Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type

Clin Neurophysiol. 2017 Sep;128(9):1656-1663. doi: 10.1016/j.clinph.2017.06.244. Epub 2017 Jul 6.

Abstract

Objective: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification.

Methods: Forty-two children were retrospectively recruited between January 2006 and June 2015.

Results: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences. Interictal EEG showed generalized spike- or polyspike-wave discharges at 2-4Hz. Seizures were controlled in 22 patients at a mean age of 60.5months. The psychomotor development was normal (30/37) or mildly delayed (7/37).

Conclusions: We reported a cohort of patients with early childhood myoclonic epilepsy (ECME), with the following characteristics: Seizures started below 5years old in otherwise normal children; Seizure types included myoclonic seizures alone or combined with GTCS and/or absences; Febrile or afebrile GTCS might appear firstly; Interictal EEG showed generalized spike- or polyspike-wave; Seizures usually were in remission before adolescence with normal development or mild cognitive or behavioral deficits in most.

Significance: ECME might be an independent epileptic syndrome not established by International League Against Epilepsy (ILAE) previously.

Keywords: Absence seizures; Early childhood; Epileptic syndrome; Generalized tonic-clonic seizures; Myoclonic seizures.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Cohort Studies
  • Electroencephalography* / methods
  • Epilepsies, Myoclonic / diagnosis*
  • Epilepsies, Myoclonic / genetics
  • Epilepsies, Myoclonic / physiopathology*
  • Epilepsy, Generalized / diagnosis*
  • Epilepsy, Generalized / genetics
  • Epilepsy, Generalized / physiopathology*
  • Female
  • Humans
  • Infant
  • Male
  • Myoclonus / diagnosis
  • Myoclonus / physiopathology
  • Retrospective Studies