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Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a generalized idiopathic epilepsy. MAE was first coined in 1970 by Dr. Hermann Doose. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic causes include mutations in the genes SLC6A1 (3p25.3),CHD2 (15q26.1), AP2M1 (10q23.2). Myoclonic atonic epilepsy (MAE) is an intermittent childhood epilepsy syndrome. MAE is characterized by jerking muscle contractions followed by sudden muscle limpness. The onset of MAE (seizure disorder) is in early childhood. Almost all patients with MAE experienced their first seizures before the age of five years. Majority of children with MAE have normal development till the time of diagnosis, thoug

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dbo:abstract
  • Das Doose-Syndrom, auch als myoklonisch-astatische Epilepsie (kurz MAE) oder Epilepsie mit myoklonisch-atonischen Anfällen bezeichnet, ist ein Erkrankungsbild in der Neurologie. Das Doose-Syndrom ist ein eigenständiges Syndrom, das zur Gruppe der im Kindesalter gehört. Es wurde erstmals 1964 vo dem deutschen Kinderneurologen und Epileptologen Hermann Dooseund 1968 von dem deutschen Kinderneurologen und Epileptologen Rolf Kruse 1968 beschrieben. (de)
  • Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a generalized idiopathic epilepsy. MAE was first coined in 1970 by Dr. Hermann Doose. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic causes include mutations in the genes SLC6A1 (3p25.3),CHD2 (15q26.1), AP2M1 (10q23.2). Myoclonic atonic epilepsy (MAE) is an intermittent childhood epilepsy syndrome. MAE is characterized by jerking muscle contractions followed by sudden muscle limpness. The onset of MAE (seizure disorder) is in early childhood. Almost all patients with MAE experienced their first seizures before the age of five years. Majority of children with MAE have normal development till the time of diagnosis, though few faces minor delay in development with speech delay. Boys tend to be affected more than girls.. Genetics plays a significant role in the cause of this disorder. It is a rare childhood epilepsy, to be found in 1 to 2 out of 100 (1 to 2%) of all childhood-onset epilepsies. (en)
  • Zespół Doose – miokloniczno-astatyczna padaczka oraz (krótka MAE) lub padaczka z napadami mioklonicznymi-atonicznymi. Zespół Doose jest niezależnym zespołem, który należy do grupy idiopatycznych uogólnionych padaczek w dzieciństwie. Po raz pierwszy została opisana przez niemieckich epileptologów Rolfa Kruse w 1968 i Hermanna Doose w 1970 roku. Na zespół ten cierpi dwukrotnie więcej chłopców niż dziewczynek. (pl)
dbo:icd10
  • G40.4
dbo:orpha
  • 1942
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  • 8376 (xsd:nonNegativeInteger)
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  • 1125031678 (xsd:integer)
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dbp:icd
  • G40.4 (en)
dbp:name
  • Myoclonic astatic epilepsy (en)
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  • 1942 (xsd:integer)
dbp:synonyms
  • Myoclonic-astatic epilepsy, myoclonic atonic epilepsy, Doose syndrome, epilepsy with myoclonic-atonic seizures, myoclonic-astatic epilepsy in early childhood (en)
dbp:wikiPageUsesTemplate
dct:subject
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rdfs:comment
  • Das Doose-Syndrom, auch als myoklonisch-astatische Epilepsie (kurz MAE) oder Epilepsie mit myoklonisch-atonischen Anfällen bezeichnet, ist ein Erkrankungsbild in der Neurologie. Das Doose-Syndrom ist ein eigenständiges Syndrom, das zur Gruppe der im Kindesalter gehört. Es wurde erstmals 1964 vo dem deutschen Kinderneurologen und Epileptologen Hermann Dooseund 1968 von dem deutschen Kinderneurologen und Epileptologen Rolf Kruse 1968 beschrieben. (de)
  • Zespół Doose – miokloniczno-astatyczna padaczka oraz (krótka MAE) lub padaczka z napadami mioklonicznymi-atonicznymi. Zespół Doose jest niezależnym zespołem, który należy do grupy idiopatycznych uogólnionych padaczek w dzieciństwie. Po raz pierwszy została opisana przez niemieckich epileptologów Rolfa Kruse w 1968 i Hermanna Doose w 1970 roku. Na zespół ten cierpi dwukrotnie więcej chłopców niż dziewczynek. (pl)
  • Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a generalized idiopathic epilepsy. MAE was first coined in 1970 by Dr. Hermann Doose. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic causes include mutations in the genes SLC6A1 (3p25.3),CHD2 (15q26.1), AP2M1 (10q23.2). Myoclonic atonic epilepsy (MAE) is an intermittent childhood epilepsy syndrome. MAE is characterized by jerking muscle contractions followed by sudden muscle limpness. The onset of MAE (seizure disorder) is in early childhood. Almost all patients with MAE experienced their first seizures before the age of five years. Majority of children with MAE have normal development till the time of diagnosis, thoug (en)
rdfs:label
  • Doose-Syndrom (de)
  • Myoclonic astatic epilepsy (en)
  • Zespół Doose (pl)
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foaf:name
  • Myoclonic astatic epilepsy (en)
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