MCID: PRG074
MIFTS: 28

Progressive Myoclonus Epilepsy, Lafora Type

Aliases & Classifications for Progressive Myoclonus Epilepsy, Lafora Type

MalaCards integrated aliases for Progressive Myoclonus Epilepsy, Lafora Type:

Name: Progressive Myoclonus Epilepsy, Lafora Type 24 25
Lafora Disease 24 25 72
Lafora Body Disease 24 25
Lafora Type Progressive Myoclonic Epilepsy 25
Epilepsy, Progressive Myoclonic, Lafora 25
Lafora Progressive Myoclonic Epilepsy 25
Lafora Progressive Myoclonus Epilepsy 25
Progressive Myoclonic Epilepsy Type 2 25
Myoclonic Epilepsy of Lafora 25

External Ids:

UMLS 72 C0751783

Summaries for Progressive Myoclonus Epilepsy, Lafora Type

Genetics Home Reference : 25 Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body. Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes. About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition worsens, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.

MalaCards based summary : Progressive Myoclonus Epilepsy, Lafora Type, also known as lafora disease, is related to myoclonus epilepsy and myoclonus, and has symptoms including myoclonus, hallucinations, visual and absence seizures. An important gene associated with Progressive Myoclonus Epilepsy, Lafora Type is EPM2A (EPM2A Glucan Phosphatase, Laforin), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver.

GeneReviews: NBK1389

Related Diseases for Progressive Myoclonus Epilepsy, Lafora Type

Diseases related to Progressive Myoclonus Epilepsy, Lafora Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 myoclonus epilepsy 29.7 NHLRC1 EPM2A
2 myoclonus 29.6 NHLRC1 EPM2A
3 epilepsy 29.6 NHLRC1 EPM2A
4 myoclonic epilepsy of lafora 29.6 NHLRC1 EPM2A
5 progressive myoclonus epilepsy 29.1 NHLRC1 EPM2A
6 unverricht-lundborg syndrome 29.0 NHLRC1 EPM2A
7 myoclonic epilepsy of unverricht and lundborg 11.8
8 dystonia 11, myoclonic 11.2
9 ataxia and polyneuropathy, adult-onset 10.5
10 early myoclonic encephalopathy 10.3
11 glycogen storage disease 10.2
12 yemenite deaf-blind hypopigmentation syndrome 10.2
13 aspiration pneumonia 10.2
14 visual epilepsy 10.2
15 status epilepticus 10.2
16 seizure disorder 10.2
17 spasticity 10.2
18 autosomal recessive disease 10.2
19 myoclonus and ataxia 10.1
20 retinitis pigmentosa 10.1
21 neuroretinitis 10.1
22 retinitis 10.1
23 ceroid lipofuscinosis, neuronal, 1 10.0
24 3-methylglutaconic aciduria, type iii 10.0
25 macular degeneration, age-related, 1 10.0
26 neuronal ceroid-lipofuscinoses 10.0
27 neuronal ceroid lipofuscinosis 10.0
28 alzheimer disease 9.9
29 atrial standstill 1 9.9
30 night blindness, congenital stationary, autosomal dominant 2 9.9
31 obsessive-compulsive disorder 9.9
32 hemochromatosis, type 1 9.9
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
34 epilepsy, myoclonic juvenile 9.9
35 epilepsy, progressive myoclonic, 4, with or without renal failure 9.9
36 neuraminidase deficiency 9.9
37 tay-sachs disease 9.9
38 graves disease 1 9.9
39 epilepsy, idiopathic generalized 9.9
40 branchiootic syndrome 1 9.9
41 fatty liver disease, nonalcoholic 1 9.9
42 alpha-1-antitrypsin deficiency 9.9
43 alacrima, achalasia, and mental retardation syndrome 9.9
44 epilepsy, progressive myoclonic, 10 9.9
45 congenital generalized lipodystrophy 9.9
46 goiter 9.9
47 myoclonic cerebellar dyssynergia 9.9
48 dementia 9.9
49 gaucher's disease 9.9
50 sphingolipidosis 9.9

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy, Lafora Type:



Diseases related to Progressive Myoclonus Epilepsy, Lafora Type

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy, Lafora Type

UMLS symptoms related to Progressive Myoclonus Epilepsy, Lafora Type:


myoclonus, hallucinations, visual, absence seizures, unspecified visual loss

Drugs & Therapeutics for Progressive Myoclonus Epilepsy, Lafora Type

Drugs for Progressive Myoclonus Epilepsy, Lafora Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
2 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Recruiting NCT03876522

Search NIH Clinical Center for Progressive Myoclonus Epilepsy, Lafora Type

Genetic Tests for Progressive Myoclonus Epilepsy, Lafora Type

Anatomical Context for Progressive Myoclonus Epilepsy, Lafora Type

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy, Lafora Type:

41
Brain, Skin, Liver, Skeletal Muscle, Cortex, Heart, Retina

Publications for Progressive Myoclonus Epilepsy, Lafora Type

Articles related to Progressive Myoclonus Epilepsy, Lafora Type:

(show top 50) (show all 375)
# Title Authors PMID Year
1
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. 38 4
28800070 2017
2
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. 38 4
28536304 2017
3
Lafora disease. 38 4
27702709 2016
4
Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials. 38 4
27629998 2016
5
Efficacy and tolerability of perampanel in ten patients with Lafora disease. 38 4
27459034 2016
6
Mild Lafora disease: clinical, neurophysiologic, and genetic findings. 38 4
25270369 2014
7
Are c.436G>A mutations less severe forms of Lafora disease? A case report. 38 4
25667860 2014
8
Early-onset Lafora body disease. 38 4
22961547 2012
9
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers? 38 4
22456482 2012
10
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. 38 4
22036712 2012
11
Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. 38 4
21555062 2011
12
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. 38 4
21552327 2011
13
A PTG variant contributes to a milder phenotype in Lafora disease. 38 4
21738631 2011
14
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. 38 4
20738377 2010
15
MR spectroscopy findings in Lafora disease. 38 4
19040628 2009
16
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. 38 4
19322595 2009
17
Conservation of the glucan phosphatase laforin is linked to rates of molecular evolution and the glucan metabolism of the organism. 38 4
19545434 2009
18
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. 38 4
19267391 2009
19
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation. 38 4
17509003 2007
20
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. 38 4
17337485 2007
21
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 38 4
17389303 2007
22
Clinical and genetic findings in 26 Italian patients with Lafora disease. 38 4
16529633 2006
23
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. 38 4
16134145 2005
24
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. 38 4
15930137 2005
25
Nonepileptic visual hallucinations in Lafora disease. 38 4
15824378 2005
26
Lafora disease due to EPM2B mutations: a clinical and genetic study. 38 4
15781812 2005
27
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. 38 4
16021330 2005
28
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 38 4
14722920 2004
29
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. 38 4
14532330 2003
30
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 38 4
14663053 2003
31
Mutations in NHLRC1 cause progressive myoclonus epilepsy. 38 4
12958597 2003
32
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. 38 4
12960212 2003
33
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. 38 4
12019206 2002
34
Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease. 38 4
11968446 2002
35
A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. 38 4
11739371 2002
36
Advances in the genetics of progressive myoclonus epilepsy. 38 4
11579433 2001
37
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. 38 4
11175283 2000
38
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. 38 4
11001928 2000
39
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). 38 4
9931343 1999
40
Progressive myoclonus epilepsies: clinical and genetic aspects. 38 4
8500430 1993
41
Biopsy results in a kindred with Lafora disease. 38 4
8418793 1993
42
Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. 38 4
6796905 1981
43
Managing Lafora body disease with vagal nerve stimulation. 4
28238966 2017
44
Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies. 4
28799509 2017
45
Post-modern therapeutic approaches for progressive myoclonus epilepsy. 4
27630083 2016
46
The history of progressive myoclonus epilepsies. 4
27621064 2016
47
Vagus nerve stimulation in Lafora body disease. 4
25667850 2013
48
The regulation of muscle glycogen: the granule and its proteins. 4
20353490 2010
49
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease. 4
20117916 2010
50
Glucan, water dikinase phosphorylates crystalline maltodextrins and thereby initiates solubilization. 4
18419779 2008

Variations for Progressive Myoclonus Epilepsy, Lafora Type

Expression for Progressive Myoclonus Epilepsy, Lafora Type

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy, Lafora Type.

Pathways for Progressive Myoclonus Epilepsy, Lafora Type

GO Terms for Progressive Myoclonus Epilepsy, Lafora Type

Biological processes related to Progressive Myoclonus Epilepsy, Lafora Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 8.96 NHLRC1 EPM2A
2 glycogen biosynthetic process GO:0005978 8.62 NHLRC1 EPM2A

Sources for Progressive Myoclonus Epilepsy, Lafora Type

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73 UMLS via Orphanet
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