Myoclonic astatic epilepsy

Myoclonic astatic epilepsy, also called myoclonic atonic epilepsy or Doose syndrome, is a generalized epilepsy of childhood marked by myoclonic seizures, brief muscle jerks, and myoclonic-astatic seizures, in which a muscle jerk is immediately followed by a sudden loss of muscle tone and a fall, a seizure type distinctive to this syndrome. It can be caused by mutations in several genes, including SLC6A1, CHD2 and AP2M1, and seizures typically begin between ages 2 and 5 in children who, in about 84 percent of cases, had developed normally beforehand. It is more common in boys, who make up roughly 74 percent of cases, and its course varies widely, from spontaneous remission with normal development in some untreated children to full seizure control in about half of those treated, while others experience intellectual decline and further neurological complications.