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Lafora disease

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Lafora disease" returned 10 free, full-text review articles. First few results:
Lafora Disease: A Review of Molecular Mechanisms and Pathology.
Last Updated: Feb 25, 2020

Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the (laforin glycogen phosphatase) or (malin E3 ubiquitin ligase) genes. Neuropathology is characterized by malformed precipitated glycogen aggregates termed Lafora bodies. Asymptomatic ...

Lafora disease - from pathogenesis to treatment strategies.
Last Updated: Mar 09, 2020

Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, ...

Lafora disease: from genotype to phenotype.
Last Updated: Nov 14, 2018

The progressive myoclonic epilepsy of Lafora or Lafora disease (LD) is a neurodegenerative disorder characterized by recurrent seizures and cognitive deficits. With typical onset in the late childhood or early adolescence, the patients show progressive worsening of the disease symptoms, ...

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10 Free Review Articles 15 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Lafora disease" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Lafora disease" returned 58 free, full-text research articles. First few results:
Treatment with metformin in twelve patients with Lafora disease.
Last Updated: Mar 30, 2020

Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotective effect. For this reason, in 2016, the European Medicines ...

A novel EPM2A mutation yields a slow progression form of Lafora disease.
Last Updated: Sep 01, 2019

Lafora disease (LD, OMIM 254780) is a rare disorder characterized by epilepsy and neurodegeneration leading patients to a vegetative state and death, usually within the first decade from the onset of the first symptoms. In the vast majority of cases LD is related to mutations in either ...

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58 Free Research Articles 127 Research Articles