Epilepsy with myoclonic-atonic seizures: an update on genetic causes, nosological limits, and treatment strategies

Abstract

Epilepsy with myoclonic-atonic seizures is a childhood-onset epilepsy syndrome characterised by a range of seizure types, including myoclonic-atonic, atonic, myoclonic, absence, and generalised tonic-clonic seizures. The causes and outcomes of this syndrome are highly variable, with many uncertainties surrounding its classification and prognosis. Traditional antiseizure medications and the ketogenic diet remain the main treatment options. Although two-thirds of children attain remission from seizures without cognitive or behavioural sequelae, some continue to have drug-resistant seizures, intellectual disability, and behavioural problems. The identification of single-gene causes in a substantial subset of patients highlights the importance of genetic testing for development of personalised treatment strategies. However, diagnostic complexities have hindered the development of trials for new therapies. Better recognition of the distinct features of epilepsy with myoclonic-atonic seizures, combined with advances in molecular genetic testing, will pave the way for more focused clinical research and drug development. Future studies should aim to identify genetic causes and tailor treatment options, offering hope for improved long-term outcomes.