Epilepsy with myoclonic atonic seizures

MONDO:0014633

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.

Also known as: Doose syndrome, EMAS, EMAtS, MAE, Myoclonic Atonic Epilepsy, epilepsy with myoclonic atonic seizures, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic-atonic seizures

8 clinical trials for this condition and its sub-types.

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