Learn About Epilepsy with Myoclonic-Atonic Seizures

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. 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.
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What are the alternative names for Epilepsy with Myoclonic-Atonic Seizures?
  • Epilepsy with myoclonic-atonic seizures
  • Doose syndrome
  • Epilepsy with myoclonic-astatic seizures
  • Epilepsy with myoclono-astatic crisis
  • Myoclonic astatic epilepsy
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What are the latest Epilepsy with Myoclonic-Atonic Seizures Clinical Trials?
Genetics of Epilepsy and Related Disorders

Summary: Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to disorders related to epilepsy. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

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Observational, Prospective, Multicenter Study of Epidyolex® (Cannabidiol CBD 100 mg/ml) Oral Solution, as Adjunctive Treatment for Seizures Associated With Lennox-Gastaut Syndrome (LGS) and Dravet Syndrome (DS)

Summary: This is a prospective, observational study on approximately 70 Real World participants affected by LGS or DS, treated with Epidyolex® as prescribed in the summary of product characteristics. The eligible participants are expected to participate in the study for a duration of 56 weeks of treatment.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Epilepsy with Myoclonic-Atonic Seizures?
Assessment of the long-term efficacy and safety of adjunctive perampanel in adolescent patients with epilepsy: Post hoc analysis of open-label extension studies.
Stiripentol add-on therapy for drug-resistant focal epilepsy.
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Therapeutic approach to neurological manifestations of Angelman syndrome.