"Lafora Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110).
Descriptor ID |
D020192
|
MeSH Number(s) |
C10.228.140.490.375.130.650.500 C10.228.140.490.493.063.650.500 C10.574.500.529 C16.320.400.480
|
Concept/Terms |
Lafora Disease- Lafora Disease
- Progressive Myoclonic Epilepsy, Lafora Type
- Lafora Body Disease
- Lafora Progressive Myoclonic Epilepsy
- Lafora Type Progressive Myoclonic Epilepsy
- Epilepsy, Progressive Myoclonic 2A
- Lafora Body Disorder
- Myoclonic Epilepsy of Lafora
- Lafora Myoclonic Epilepsy
- Epilepsy Progressive Myoclonic 2
- Lafora Progressive Myoclonus Epilepsy
- Progressive Myoclonic Epilepsy Type 2
- Progressive Myoclonus Epilepsy, Lafora Type
- Epilepsy, Progressive Myoclonic, Lafora
- Progressive Myoclonic Epilepsy, Lafora
|
Below are MeSH descriptors whose meaning is more general than "Lafora Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Epilepsy [C10.228.140.490]
- Epilepsy, Generalized [C10.228.140.490.375]
- Epilepsies, Myoclonic [C10.228.140.490.375.130]
- Myoclonic Epilepsies, Progressive [C10.228.140.490.375.130.650]
- Lafora Disease [C10.228.140.490.375.130.650.500]
- Epileptic Syndromes [C10.228.140.490.493]
- Epilepsies, Myoclonic [C10.228.140.490.493.063]
- Myoclonic Epilepsies, Progressive [C10.228.140.490.493.063.650]
- Lafora Disease [C10.228.140.490.493.063.650.500]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Lafora Disease [C10.574.500.529]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Lafora Disease [C16.320.400.480]
Below are MeSH descriptors whose meaning is more specific than "Lafora Disease".
This graph shows the total number of publications written about "Lafora Disease" by people in this website by year, and whether "Lafora Disease" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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2002 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2011 | 1 | 0 | 1 |
2012 | 0 | 1 | 1 |
2013 | 1 | 0 | 1 |
2015 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Lafora Disease" by people in Profiles.
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Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. J Biosci. 2015 Dec; 40(5):863-71.
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Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease. Mol Biol Cell. 2013 Dec; 24(24):3776-86.
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Lafora disease E3 ubiquitin ligase malin is recruited to the processing bodies and regulates the microRNA-mediated gene silencing process via the decapping enzyme Dcp1a. RNA Biol. 2012 Dec; 9(12):1440-9.
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The laforin-malin complex negatively regulates glycogen synthesis by modulating cellular glucose uptake via glucose transporters. Mol Cell Biol. 2012 Feb; 32(3):652-63.
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The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system. Hum Mol Genet. 2009 Feb 15; 18(4):688-700.
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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet. 2002 May 15; 11(11):1263-71.