Neuropediatrics 2012; 43 - PS19_05
DOI: 10.1055/s-0032-1307152

Clinical characterization of myoclonic-astatic epilepsy

R Kleiss 1, H Muhle 1, R Boor 2, T Bast 3, G Kluger 4, J Jacobs 5, M Wolff 6, G Steiner 7, C Reutlinger 8, J Spiegler 9, U Stephani 1, I Helbig 1, S von Spiczak 1
  • 1Klinik für Neuropädiatrie, Universitätsklinikum Schleswig-Holstein, Kiel, Germany
  • 2Norddeutsches Epilepsiezentrum Raisdorf, Schwentinental, Germany
  • 3Epilepsiezentrum Kork, Kehl-Kork, Germany
  • 4Klinik für Neuropädiatrie und Neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche, Schön Klinik Vogtareuth, Vogtareuth, Germany
  • 5Klinik II Neuropädiatrie und Muskelerkrankungen, Universitätsklinikum Freiburg, Freiburg, Germany
  • 6Abteilung für Neuropädiatrie, Universitätsklinikum Tübingen, Tübingen, Germany
  • 7Kinder- und Jugendmedizin, Imland Klinik, Rendsburg, Germany
  • 8Helios Klinik Geesthacht, Geesthacht, Germany
  • 9Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany

Aims: Myoclonic-astatic epilepsy (MAE, Doose syndrome) represents a generalized epilepsy syndrome starting early in childhood. The aim of this study is to further characterize this rare and poorly understood epilepsy syndrome.

Methods: Using a multicenter approach, 52 patients with MAE were recruited throughout Germany. Comprehensive clinical data with respect to medical history, family history, course of the epilepsy and outcome were collected by retrospective analysis of patient records and personal interviews of the parents.

Results: The median age-of-onset of the epilepsy was 2.8 years. A total of 12 different seizure types was documented at epilepsy onset. Most commonly, generalized tonic-clonic seizures were reported (27%). In addition, various seizure types occurred during the course of the epilepsy, including atonic and myoclonic seizures in 80% of the patients.

74% of patients became seizure-free on medication. Seizure freedom was achieved in 40% of patients treated with valproate and in 43% of patients treated with lamotrigine. A reduction of the seizure frequency was observed in 47% of patients treated with ethosuximide. The median period between begin of therapy and remission of the epilepsy was six months.

In 34/52 patients, developmental delay occurred during the course of the epilepsy with developmental progress documented upon remission or at the end of therapy. For 11/52 patients, primary developmental delay was documented.

Family history was positive for epilepsy or febrile seizure in 62% of patients.

Conclusion: Myoclonic-astatic epilepsy is characterized by a variable course with respect to onset, seizure types and treatment response. A positive family history in the majority of cases points towards a genetic cause of this epilepsy syndrome.

Additional data analysis will aim at describing possible correlations between treatment response and cognitive outcome and will focus on delineating distinctive subgroups of MAE.

MAE - Doose Syndrome