Myoclonic astatic epilepsy

Myoclonic astatic epilepsy
Other namesMyoclonic-astatic epilepsy, myoclonic atonic epilepsy, Doose syndrome, epilepsy with myoclonic-atonic seizures, myoclonic-astatic epilepsy in early childhood

Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, and renamed "Epilepsy with myoclonic-atonic seizures" in the ILAE 2017 classification, is a generalized idiopathic epilepsy. 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) and AP2M1 (10q23.2).

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