Review maps epilepsy treatments, including cannabidiol, and genetics

Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies.

Expert review of neurotherapeutics • • Review • Relevant
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AI Summary

This literature review examines epilepsy with myoclonic-atonic seizures (EMAtS), a childhood developmental and epileptic encephalopathy involving several generalized seizure types. Drawing on searches of PubMed, Embase, and OVID/MEDLINE, it summarizes the syndrome’s clinical features, diagnostic approach, genetic causes, and treatment options. The review covers commonly used antiseizure medicines, the ketogenic diet, and therapies for drug-resistant disease, including cannabidiol (CBD), felbamate, and sulthiame.

The authors report that approximately two-thirds of patients achieve seizure remission, while a substantial minority develop drug-resistant seizures, intellectual disability, and behavioral comorbidities. The review also discusses emerging treatments tailored to genetic causes such as SLC2A1, SLC6A1, SYNGAP1, CHD2, STXBP1, and SCN2A. Because this is a review, the abstract does not provide a separate estimate of CBD’s effectiveness or establish that it is superior to other treatments. This abstract-based summary cannot assess the full comparative evidence, safety details, or treatment effects for individual therapies.

💡 Key Findings

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The review describes EMAtS as a childhood epileptic encephalopathy with multiple generalized seizure types, including myoclonic-atonic seizures.
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90%
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Approximately two-thirds of patients achieve seizure remission, but a substantial minority experience drug-resistant seizures, intellectual disability, and behavioral comorbidities.
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90%
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For drug-resistant disease, the review includes the ketogenic diet, cannabidiol (CBD), felbamate, and sulthiame among treatment options.
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The review concludes that future care may increasingly combine syndrome-based treatment with precision therapies matched to specific genetic causes.
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📄 Original Abstract

INTRODUCTION: Epilepsy with myoclonic-atonic seizures (EMAtS), historically termed Doose syndrome, is a developmental and epileptic encephalopathy characterized by the usually abrupt onset of multiple generalized seizure types, including myoclonic-atonic seizures, in early childhood. Advances in genetic diagnostics, antiseizure treatments, and precision therapies have reshaped understanding and management of EMAtS. AREAS COVERED: This review synthesizes the clinical spectrum of EMAtS, including core clinical features and diagnostic approach based on a literature search of PubMed, Embase, and OVID/MEDLINE. The genetic landscape is discussed to contextualize emerging precision therapies. Treatment is reviewed hierarchically, from valproate, clobazam, levetiracetam and ethosuximide as commonly used first- and second-line agents to the ketogenic diet, cannabidiol, felbamate, and sulthiame for drug-resistant disease. Precision approaches for key genetic etiologies, includingSLC2A1, SLC6A1, SYNGAP1, CHD2, STXBP1,andSCN2A, are also reviewed. EXPERT OPINION: Although approximately two-thirds of patients with EMAtS achieve seizure remission, a substantial minority experience drug-resistant seizure, intellectual disability, and behavioral comorbidities, underscoring the importance of timely diagnosis, appropriate pharmacotherapy, and early consideration of the ketogenic diet in drug-resistant cases. As precision therapeutics advance, syndrome-based care will increasingly be complemented by treatments tailored to the specific genetic etiology.

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