{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:29:38Z","timestamp":1792664978635,"version":"4.5.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T00:00:00Z","timestamp":1664928000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>The aim of this study was to elucidate the electro-clinical features and management of the late stage of Lafora disease (LD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated the electro-clinical data and medical complications of three LD patients with mutations in <jats:italic>EPM2A<\/jats:italic> and two in <jats:italic>NHLRC1<\/jats:italic> genes during the LD late stage.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The late stage emerged after a mean period of 7 \u00b1 1.41 years from the onset of the disease. All patients developed gait ataxia becoming bedbound with severe dementia. Pluri-monthly and drug-resistant myoclonic seizures, and myoclonic absence and tonic\u2013clonic seizures were associated with daily\/pluri-daily myoclonus, while the EEG\/polygraphic findings showed diffusely slow activity with epileptiform abnormalities, often correlated with myoclonic jerks. Seizure emergencies with motor cluster\/status epilepticus and medical complications dominated the clinical picture. In particular, video-EEG\/polygraphic recordings disclosed status epilepticus with prominent motor symptoms of different subtypes refractory to IV new anti-seizure medications and responsive in 75% of cases to IV phenytoin. The main complications were dysphagia, aspiration pneumonia, acute respiratory failure, sepsis, immobility, and spasticity with bedsores. A coordinated and multidisciplinary management of the three patients with <jats:italic>EPM2A<\/jats:italic> mutations has demonstrated a reduction in seizure emergencies, medical complications and days of hospitalization, and a prolongation of the years of disease compared to the two patients with <jats:italic>NHLRC1<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Status epilepticus with prominent motor symptoms of different subtypes, often responsive to IV phenytoin, and multiple medical complications characterize the LD late stage. An effective management requires a multidisciplinary medical and nursing team, coordinated by an epileptologist with the aim of reducing seizure emergencies and medical complications.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2022.969297","type":"journal-article","created":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T10:27:05Z","timestamp":1664965625000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Electro-clinical features and management of the late stage of Lafora disease"],"prefix":"10.3389","volume":"13","author":[{"given":"Giuseppe","family":"d'Orsi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Di 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