ArticleNeurology2014
Progressive myoclonic epilepsies: definitive and still undetermined causes.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 103 citations in OpenAlex.
- Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Pooled it
- Gluten sensitivity and epilepsy: a systematic review.Journal of neurology · 2019Pooled it
- AProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Autosomal dominant Kufs disease in a Georgian adult woman: A case report.Epilepsy & behavior reports · 2025Article
- Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study.Epilepsia · 2025Article
- Expanding the spectrum ofFrontiers in genetics · 2025Article
- Myoclonus: Differential diagnosis and current management.Epilepsia open · 2024Review
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins.Clinical neurophysiology practice · 2024Review
- The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed.Neurology. Clinical practice · 2023Article
- Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.Epilepsia open · 2023Article
- The broad-spectrum activity of perampanel: state of the art and future perspective of AMPA antagonism beyond epilepsy.Frontiers in neurology · 2023Review
- A novelFrontiers in genetics · 2023Article
- Trehalose Treatment in Zebrafish Model of Lafora Disease.International journal of molecular sciences · 2022Article
- Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS.Annals of clinical and translational neurology · 2021Article
- Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.Neurology. Genetics · 2021Article
- A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.Journal of molecular neuroscience : MN · 2021Review
- Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.Journal of inherited metabolic disease · 2021Observational
- Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.Journal of the neurological sciences · 2021Article
- Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.American journal of human genetics · 2021Article
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Authors and funding
19 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy.
methodsWe collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis.
resultsWe collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings.
conclusionsInformation concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized.
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