ReviewCNS drugs2010
Lafora disease: epidemiology, pathophysiology and management.
Review in CNS drugs, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 45 citations in OpenAlex.
- Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease.Epilepsia · 2026Article
- Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.Molecular neurobiology · 2022Article
- Review
- Lafora body disease: a case of progressive myoclonic epilepsy.BMJ case reports · 2020Article
- Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.Molecular genetics and metabolism · 2020Review
- Review
- Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.Molecular neurobiology · 2017Article
- Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease.Biochimica et biophysica acta · 2016Article
- Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.Molecular neurobiology · 2016Article
- Getting a handle on glycogen synthase - Its interaction with glycogenin.Molecular aspects of medicine · 2015Review
- Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease.Molecular brain · 2014Article
- A bioassay for Lafora disease and laforin glucan phosphatase activity.Clinical biochemistry · 2013Article
- Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329.PloS one · 2013Article
- Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.Nature immunology · 2012Article
- Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation.Journal of pediatric neurosciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin. The condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.