EPM2
MCID: LFR002
MIFTS: 53

Lafora Disease (EPM2) malady

Summaries for Lafora Disease

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. the condition most commonly begins with epileptic seizures in adolescence. other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. affected individuals experience rapid cognitive deterioration and progressive increase in intensity of seizures and myoclonus. the condition is often fatal within 4 to 10 years of onset. most cases are caused by mutations in either the emp2a or nhlrc1 (also called emp2b) gene and are inherited in an autosomal recessive manner. treatment focuses on alleviating symptoms and typically includes antiepileptic and antimyoclonic drugs, and psychological support. last updated: 6/10/2013

MalaCards: Lafora Disease, also known as myoclonic epilepsy of lafora, is related to progressive myoclonus epilepsy and progressive myoclonus epilepsy, lafora type. An important gene associated with Lafora Disease is EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)), and among its related pathways are Proteolysis Putative ubiquitin pathway and Antigen processing: Ubiquitination & Proteasome degradation. The compounds 4-methylumbelliferyl phosphate and tungstate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related mouse phenotypes are muscle and cellular.

Wikipedia:63 Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal... more...

Description from OMIM:46 254780

Aliases & Classifications for Lafora Disease

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 44Novoseek, 60UMLS, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

lafora disease 8 42 44 60
myoclonic epilepsy of lafora 8 42
lafora's disease 8 22
lafora progressive myoclonic epilepsy 8
epilepsy progressive myoclonic 2 42
lafora body disorder 42
epm2 42
melf 42


External Ids:

Disease Ontology8 DOID:3534
OMIM46 254780
SNOMED-CT56 230425004
MeSH34 D020192
NCIt39 C84804

Related Diseases for Lafora Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lafora Disease:



Diseases related to lafora disease

Clinical Features for Lafora Disease

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46OMIM
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Clinical features from OMIM:

254780

Drugs & Therapeutics for Lafora Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Lafora Disease

Drug clinical trials:

Search ClinicalTrials for Lafora Disease

Search NIH Clinical Center for Lafora Disease

Search CenterWatch for Lafora Disease

Genetic Tests for Lafora Disease

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22GTR
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Genetic tests related to Lafora Disease:

id Genetic test Affiliating Genes
1 Lafora Disease22

Anatomical Context for Lafora Disease

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32MalaCards
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MalaCards organs/tissues related to Lafora Disease:

32
Skin, Liver, Heart, Brain, Cortex, Retina

Animal Models for Lafora Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lafora Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0NHLRC1, CSTB, PPP1R3C, PRKAB2, TRIM32, EPM2A
2MP:00053848.7STUB1, PRDM8, EPM2A, GBE1, CLN3, ACP1
3MP:00053868.6CSTB, STUB1, PRKAB2, PRDM8, TRIM32, EPM2A
4MP:00036318.5CSTB, STUB1, PRDM8, TRIM32, EPM2A, GBE1

Publications for Lafora Disease

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50PubMed
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Articles related to Lafora Disease:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Inhibiting glycogen synthesis prevents lafora disease in a mouse model. (23913475)
2013
2
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. (22703635)
2013
3
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. (23663739)
2013
4
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease. (24131995)
2013
5
Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate neuronatin-aggregates as a common downstream participant in neuronal loss. (24345642)
2013
6
Early-onset Lafora body disease. (22961547)
2012
7
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease. (22669944)
2012
8
Autophagy defects in Lafora disease: cause or consequence? (22301990)
2012
9
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. (21552327)
2011
10
Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase. (21728993)
2011
11
Lafora disease: epidemiology, pathophysiology and management. (20527995)
2010
12
Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment. (20163446)
2010
13
The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits. (20534808)
2010
14
Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease. (19542233)
2009
15
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. (19322595)
2009
16
Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. (19529779)
2009
17
Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog. (19949558)
2009
18
Abnormal metabolism of glycogen phosphate as a cause for Lafora disease. (18852261)
2008
19
Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate. (18263761)
2008
20
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. (18311786)
2008
21
Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451)
2007
22
A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. (17908927)
2007
23
Lafora disease, seizures and sugars. (17915579)
2007
24
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. (17389303)
2007
25
Lafora disease. (17047580)
2006
26
Mechanisms of unexpected and/or sudden death in Lafora disease. (16326059)
2006
27
Clinical and genetic findings in 26 Italian patients with Lafora disease. (16529633)
2006
28
Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease. (17010495)
2006
29
Lafora disease with primary generalized epileptic myoclonus. (15929095)
2005
30
Nonepileptic visual hallucinations in Lafora disease. (15824378)
2005
31
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
32
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. (14706656)
2004
33
A Second Gene for Lafora Disease. (15562314)
2004
34
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (12915448)
2003
35
A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. (11739371)
2002
36
Long-term observations of two siblings with Lafora disease treated with zonisamide. (11518630)
2001
37
Glucose metabolism evaluated by positron emission tomography in Lafora disease. (10618892)
1999
38
Lafora disease: diagnosis by skin biopsy. (10534649)
1999
39
Identification of a recombination event narrowing the Lafora disease gene region. (9222970)
1997
40
Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease. (8230063)
1993
41
Biopsy results in a kindred with Lafora disease. (8418793)
1993
42
Comparative study of intraneuronal polyglucosan bodies in brains from patients with Lafora disease and aged dogs. (1335204)
1992
43
Lafora disease: a progressive myoclonus epilepsy. (1466943)
1992
44
Lafora-body disease with optic atrophy, macular degeneration and cardiac failure. (2509638)
1989
45
Diagnosis of Lafora disease by skin biopsy. (2456316)
1988
46
Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora disease. (2845003)
1988
47
Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex. (3032486)
1987
48
Brainstem auditory evoked responses in Lafora disease. (3000648)
1985
49
Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. (6796905)
1981
50
Muscle in Lafora disease. (4140718)
1974

Genetic Variations for Lafora Disease

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Expression for genes affiliated with Lafora Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lafora Disease

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Pathways for genes affiliated with Lafora Disease

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12EMD Millipore, 53Reactome, 29KEGG
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Pathways related to Lafora Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PARK2, STUB1, UBE2D1
2
Hide members
9.3NHLRC1, PARK2, TRIM32, STUB1, UBE2D1

Compounds for genes affiliated with Lafora Disease

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Lafora Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl phosphate4410.4CDKN3, DUSP19
2tungstate4410.4ACP1, DUSP13
3cap-p4410.4DUSP19, CDKN3
4cytostatin4410.4DUSP19, CDKN3
5dinophysistoxin 14410.4CDKN3, DUSP19
6tautomycin4410.4DUSP19, CDKN3
7fostriecin4410.4DUSP19, CDKN3
8adenosine 5-o-(3-thiotriphosphate)4410.4CDKN3, DUSP19
9sodium stibogluconate44 1111.3CDKN3, ACP1
10cantharidin4410.3DUSP19, CDKN3
11starch4410.3ACP1, GBE1, EPM2A
12microcystin-lr4410.3DUSP19, CDKN3
13p-nitrophenyl phosphate4410.2ACP1, CDKN3, DUSP19
14trifluoperazine44 28 1112.2DUSP19, CDKN3, ACP1
15calmidazolium4410.2DUSP19, CDKN3
16sodium orthovanadate44 5911.2DUSP19, CDKN3, ACP1
17phenylarsine oxide4410.2DUSP19, CDKN3, ACP1
18fluoride4410.2ACP1, CDKN3, DUSP19
19calyculin a44 59 1112.1ACP1, CDKN3, DUSP19
20levodopa44 1111.1DUSP19, CDKN3, PARK2
21ganciclovir44 1111.1ACP1, CDKN3, DUSP19
22sodium fluoride4410.1DUSP19, CDKN3
23vanadate4410.1ACP1, CDKN3, DUSP19
24nmda44 2811.0PARK2, ACP1, DUSP19
25n-ethylmaleimide44 1111.0DUSP19, CDKN3, ACP1
26cl 1004410.0ACP1, CDKN3, DUSP19, DUSP13
27phosphothreonine4410.0ACP1, CDKN3, DUSP19, DUSP13
28phosphoserine44 2411.0DUSP13, DUSP19, CDKN3, ACP1
29okadaic acid44 5910.9DUSP19, CDKN3, ACP1, PARK2
30phosphotyrosine449.9DUSP13, DUSP19, CDKN3, ACP1
31cytochalasin d44 5910.8ACP1, CDKN3, DUSP19
32lactone449.7CDKN3, DUSP19
33phosphoric acid44 2410.7UBE2D1, STUB1, TRIM32, PARK2
34h2o2449.6PARK2, ACP1, CDKN3, DUSP19, DUSP13
35pyrophosphate44 2410.6PARK2, TRIM32, STUB1, UBE2D1
36glycogen44 2410.6PPP1R3C, DUSP19, CDKN3, EPM2A, GBE1, PARK2
37Adenosine monophosphate11 2410.5UBE2D1, STUB1, PRKAB2, TRIM32, PARK2
38phosphoinositide449.5DUSP19, CDKN3, ACP1, PARK2
39cysteine449.5CSTB, NFU1, DUSP13, DUSP19, CDKN3, ACP1
40serine449.2PARK2, ACP1, CLN3, CDKN3, DUSP19, DUSP13
41tyrosine448.9STUB1, DUSP13, DUSP19, CDKN3, EPM2A, ACP1

GO Terms for genes affiliated with Lafora Disease

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16Gene Ontology
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Cellular components related to Lafora Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057839.6NHLRC1, PARK2, CLN3, EPM2AIP1, EPM2A
2cytosolGO:0058298.1TUBG2, UBE2D1, STUB1, PRKAB2, NFU1, TRIM32
3cytoplasmGO:0057377.8PARK2, NNAT, UBE2D1, CSTB, STUB1, NFU1

Biological processes related to Lafora Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00597810.1GBE1, PPP1R3C
2protein dephosphorylationGO:0064709.6EPM2A, DUSP19, DUSP13
3positive regulation of protein ubiquitinationGO:0313989.6UBE2D1, STUB1, NHLRC1
4protein polyubiquitinationGO:0002099.3NHLRC1, PARK2, TRIM32, STUB1, UBE2D1

Molecular functions related to Lafora Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:0081389.8EPM2A, CDKN3, DUSP13
2protein tyrosine phosphatase activityGO:0047259.7EPM2A, CDKN3, DUSP19, DUSP13
3protein serine/threonine phosphatase activityGO:0047229.6PPP1R3C, CDKN3, EPM2A
4ubiquitin-protein ligase activityGO:0048429.3UBE2D1, STUB1, TRIM32, PARK2, NHLRC1
5protein bindingGO:0055157.9PPP1R3C, STUB1, PRKAB2, NFU1, TRIM32, CDKN3

Products for genes affiliated with Lafora Disease

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Sources for Lafora Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet