Myoclonic-astatic epilepsy

Myoclonic astatic epilepsy epitomises a spectrum of idiopathic generalised epilepsies with prominent myoclonic seizures, appearing in previously healthy children. Myoclonic astatic epilepsy represents about 2% of all childhood epilepsies. Onset is between 2 and 6 years of age. Myoclonic seizures and atonic falls might be repeated many times daily and are often associated with episodes of non-convulsive status epilepticus and general tonic-clonic seizures. Interictal EEG, often normal at onset, can become very disorganised. Outcome is unpredictable. Remission within a few months or years with normal cognition is possible even after a severe course. About 30% of children experience an epileptic encephalopathy with longlasting intractability and cognitive impairment. 
A few children with myoclonic astatic epilepsy inherited SCN1A and GABRG2 gene mutations from parents with generalised epilepsy with febrile seizures plus+. However, the genetics of myoclonic astatic epilepsy are  complex.

If you have a child who you think may have this condition and you would like us to review the diagnosis or provide genetic testing please contact us at neuroscience@meyer.it.