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

Guerrini, Renzo; Scheffer, Ingrid; Balestrini, Simona; (2025) Epilepsy with myoclonic-atonic seizures: an update on genetic causes, nosological limits, and treatment strategies. Lancet Neurology , 24 (4) pp. 348-360. 10.1016/S1474-4422(25)00032-8.

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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.

Type: Article
Title: Epilepsy with myoclonic-atonic seizures: an update on genetic causes, nosological limits, and treatment strategies
Location: England
DOI: 10.1016/S1474-4422(25)00032-8
Publisher version: https://doi.org/10.1016/S1474-4422(25)00032-8
Language: English
Additional information: This version is the author-accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
URI: https://discovery.ucl.ac.uk/id/eprint/10207301
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