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| Myoclonic astatic epilepsy | |
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| Other names | Myoclonic-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), AP2M1 (10q23.2).[1]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Myoclonic astatic epilepsy". www.orpha.net.
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