Skip to main content
SpringerLink
Log in

Epilepsy with Myoclonic Absences

  • Review Article
  • Published:
CNS Drugs Aims and scope Submit manuscript

Abstract

Among the epileptic syndromes that are defined mainly on the basis of a characteristic seizure type, epilepsy with myoclonic absences (EMA) stands out as a somewhat controversial entity. This is because the sound and evident clinical characteristics on which it was identified some 30 years ago have evolved, mostly as a consequence of changes in the practical management of epilepsies and to the description of myoclonic components in a variety of other generalised epilepsies with absences.

Myoclonic absences (MA) are described as typical absences with sudden onset and offset that are associated with generalised spike and wave (SW) discharges on the ECG, with distinctive traits. Clinically, absences are associated with axial hypertonia (the subject usually bends forward and slightly raises their shoulders and arms), and jerks synchronous with the SW discharges. Neurophysiologically, axial hypertonia and rhythmic jerks may be recorded on polygraphic surface electromyogram leads in association with the typical SW discharges; as such, despite an ECG, the diagnosis may be missed in the absence of video documentation of the seizure and/or adequate polygraphy. MA need to be distinguished from absences with other types of prominent myoclonic accompaniment (perioral, eyelid, limbs).

The prognosis of EMA remains variable. Modern therapeutic combinations, such as valproic acid and ethosuximide, or valproic acid and lamotrigine, are usually effective; however, in a proportion of patients, seizures are resistant to drug treatment. These patients may experience cognitive deterioration and, in some cases, evolution towards a more severe form of epilepsy, including the Lennox-Gastaut syndrome. The more benign cases usually present with MA as the only seizure type, while patients who experience other seizures, especially generalised tonic-clonic seizures, in association with MA may have a less favourable outcome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Tassinari CA, Lyagoubi S, Santos V, et al. Etude des décharges de pointes ondes chez l’homme II: Les aspects cliniques et électroencéphalographiques des absences myocloniques. Rev Neurol 1969; 121: 379–83

    PubMed  CAS  Google Scholar 

  2. Lugaresi E, Pazzaglia P, Franck L, et al. Evolution and prognosis of primary generalized epilepsies of the petit mal absence type. In: Lugaresi E, Pazzaglia P, Tassinari CA, editors. Evolution and prognosis of epilepsy. Bologna: Aulo Gaggi, 1973: 2–22

    Google Scholar 

  3. Salas Puig J, Acebes A, Gonzalez C, et al. Epilepsy with myoclonic absences. Neurologia 1990; 5: 242–5

    PubMed  CAS  Google Scholar 

  4. Manonmani V, Wallace SJ. Epilepsy with myoclonic absences. Arch Dis Child 1994; 70: 288–90

    Article  PubMed  CAS  Google Scholar 

  5. Elia M, Guerrini R, Musumeci SA, et al. Myoclonus absence-like seizures and chromosome abnormality syndromes. Epilepsia 1998; 39: 660–3

    Article  PubMed  CAS  Google Scholar 

  6. Capovilla G, Rubboli G, Beccaria F, et al. A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy: a video-polygraphic study. Epileptic Disord 2001; 3: 57–61

    PubMed  CAS  Google Scholar 

  7. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389–99

    Article  Google Scholar 

  8. Engel Jr J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy. Report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001; 42: 796–803

    Google Scholar 

  9. Bureau M, Tassinari CA. The syndrome of myoclonic absences. In: Roger J, Bureau M, Dravet C, et al., editors. Epileptic syndromes in infancy, childhood and adolescence. 4th ed. London: John Libbey, 2005: 338–44

    Google Scholar 

  10. Loiseau P, Panayiotopoulos CP, Hirsch E. Childhood absence epilepsy and related syndromes. In: Roger J, Bureau M, Dravet CH, et al., editors. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London: John Libbey, 2002: 285–303

    Google Scholar 

  11. Guerrini R, Bureau M, Mattei MG, et al. Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. Epilepsia 1990; 31: 557–66

    Article  PubMed  CAS  Google Scholar 

  12. Aicardi J. Typical absences in the first two years of life. In: Duncan JS, Panayiotopoulos CP, editors. Typical absences and related syndromes. London: Churchill Livingstone, 1994: 284–8

    Google Scholar 

  13. Verrotti A, Greco R, Chiarelle F, et al. Epilepsy with myoclonic absences with early onset: a follow-up study. J Child Neurol 1999; 14: 746–9

    Article  PubMed  CAS  Google Scholar 

  14. Chaix Y, Daquin G, Monteiro F, et al. Absence epilepsy with onset before age three years: a heterogeneous and often severe condition. Epilepsia 2003; 44: 944–9

    Article  PubMed  Google Scholar 

  15. Gardella E, Rubboli G, Meletti S, et al. Polygraphic study of muscular activation pattern in myoclonic absence seizures. Epilepsia 2002; 43Suppl. 8: 98–9

    Google Scholar 

  16. Ikeda A, Nagamine T, Kunieda T, et al. Clonic convulsion caused by epileptic discharges arising from the human supplementary motor area as studied by subdural recording. Epileptic Disord 1999; 1: 21–6

    PubMed  CAS  Google Scholar 

  17. Bureau M, Tassinari CA. Myoclonic absences: the seizure and the syndrome. In: Delgado-Escueta AV, Guerrini R, Medina MT, et al., editors. Advances in neurology: myoclonic epilepsies. Vol. 95. Philadelphia (PA): Lippincott Williams and Wilkins, 2005: 185–96

    Google Scholar 

  18. Giovanardi Rossi P, Ricciotti A, Melideo G, et al. Atypical myoclonic absences: clinical, electroencephalographic and neuropsychological aspects. Clin Electroencephalogr 1988; 19: 87–94

    PubMed  CAS  Google Scholar 

  19. Tassinari CA, Michelucci R, Rubboli G, et al. Myoclonic absence epilepsy. In: Duncan JS, Panayiotopoulos CP, editors. Typical absences and related syndromes. London: Churchill Livingstone, 1995: 187–95

    Google Scholar 

  20. Jeavons PM. Nosological problems of myoclonic epilepsies in childhood and adolescence. Dev Med Child Neurol 1977; 19(1): 3–8

    Article  PubMed  CAS  Google Scholar 

  21. Panayiotopoulos CP, Ferrie CD, Giannakodimos S, et al. Perioral myoclonia with absences: a new syndrome. In: Wolf P, editor. Epileptic seizures and syndromes. London: John Libbey, 1995: 143–53

    Google Scholar 

  22. Panayiotopoulos CP. Treatment of typical absence seizures and related epileptic syndromes. Paediatr Drugs 2001; 3: 379–403

    Article  PubMed  CAS  Google Scholar 

  23. Karceski S, Morrell MJ, Carpenter D. Treatment of epilepsy in adults: expert opinion, 2005. Epilepsy Behav 2005; 7Suppl. 1: 1–64

    Article  Google Scholar 

  24. Wallace SJ. Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide. Epilepsy Res 1998; 29: 147–54

    Article  PubMed  CAS  Google Scholar 

  25. Crespel A, Genton P, Berramdane M, et al. Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies. Neurology 2005; 65(5): 762–4

    Article  PubMed  CAS  Google Scholar 

  26. Hirsch E, Blanc-Platier A, Marescaux C. What are the relevant criteria for a better classification of epileptic syndromes with typical absences? In: Malafosse A, Genton P, Hirsch E, et al., editors. Idiopathic generalized epilepsies: clinical, experimental and genetic aspects. London: John Libbey, 1994: 87–93

    Google Scholar 

  27. Verrotti A, Greco R, Chiarelli F, et al. Epilepsy with myoclonic absences with early onset: a follow-up study. J Child Neurol 1999; 14: 746–9

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

The authors have no conflicts of interest that are directly relevant to the content of this review, and no sources of funding were used in its preparation.

Author information

Authors and Affiliations

  1. Centre Saint Paul-HHG, Hôpital Henri Gastaut, 300 Bd de Sainte Marguerite, Marseille, 13009, France

    Pierre Genton & Michelle Bureau

Authors
  1. Pierre Genton
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Michelle Bureau
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Pierre Genton.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Genton, P., Bureau, M. Epilepsy with Myoclonic Absences. CNS Drugs 20, 911–916 (2006). https://doi.org/10.2165/00023210-200620110-00004

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.2165/00023210-200620110-00004

Keywords

Search

Navigation