What is the definition of Epilepsy with Myoclonic-Atonic Seizures?

Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonic-atonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures each day. The epilepsy may result in a delay or regression of skills.  Autistic features and ataxic (poorly controlled) movements have been reported in some cases. Treatment may include valproic acid alone or with other antiepileptic drugs. Ketogenic (high fat, low carb) diet has been successful in some. Long term outlook ranges from persistent seizures that do not respond to treatment and intellectual disability, to complete seizure remission after several years and normal outcome. Changes in the SCN1A, SCN1B, GABRG2, CHD2, and SLC6A1 genes can cause or contribute to epilepsy with myoclonic-atonic seizures. However, in many cases the cause remains unknown. Epilepsy with myoclonic-atonic seizures can be inherited from an affected parent or occur for the first time in a family as a sporadic disease.

What are the alternative names for Epilepsy with Myoclonic-Atonic Seizures?

  • Myoclonic astatic epilepsy
  • Doose syndrome
  • Epilepsy with myoclonic-astatic seizures
  • Epilepsy with myoclono-astatic crisis