MCID: PRG074
MIFTS: 23

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 73
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

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.

MalaCards based summary : Progressive Myoclonus Epilepsy, Lafora Type, also known as lafora disease, is related to myoclonic epilepsy of lafora and epilepsy, progressive myoclonic, 10, and has symptoms including myoclonus, hallucinations, visual and unspecified visual loss. The drugs Inulin and Cola 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:

# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 12.5
2 epilepsy, progressive myoclonic, 10 11.6
3 epilepsy 10.1
4 progressive myoclonus epilepsy 10.1
5 myoclonus epilepsy 10.1
6 myoclonus 10.1

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, unspecified visual loss, absence seizures

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
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
2 Cola Nutraceutical Phase 4
3 Soy Bean Nutraceutical Phase 4
4 insulin
5 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dietary Fiber Mixture in Constipated Pediatric Patients Completed NCT01333787 Phase 4
2 Ketogenic Diet in Lafora Disease Completed NCT00007124

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, Cortex, Retina

Publications for Progressive Myoclonus Epilepsy, Lafora Type

Articles related to Progressive Myoclonus Epilepsy, Lafora Type:

(show top 50) (show all 146)
# Title Authors Year
1
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. ( 28536304 )
2017
2
Clinical and genetic studies in patients with Lafora disease from Pakistan. ( 28131202 )
2017
3
A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood. ( 28818698 )
2017
4
Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family. ( 28934672 )
2017
5
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. ( 28800070 )
2017
6
Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease. ( 28973665 )
2017
7
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease. ( 28098937 )
2017
8
Lafora disease. ( 27702709 )
2016
9
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
10
Efficacy and tolerability of perampanel in ten patients with Lafora disease. ( 27459034 )
2016
11
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. ( 27574708 )
2016
12
Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. ( 26648032 )
2015
13
Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease. ( 25627694 )
2015
14
Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. ( 25544560 )
2015
15
Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease. ( 25416783 )
2015
16
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. ( 25683376 )
2015
17
Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway. ( 26102034 )
2015
18
PTG depletion rescues malin-deficient Lafora disease in mouse. ( 24419970 )
2014
19
Lafora disease: psychiatric manifestations, cognitive decline, and visual hallucinations. ( 25481721 )
2014
20
Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation. ( 25015673 )
2014
21
Are c.436G>A mutations less severe forms of Lafora disease? A case report. ( 25667860 )
2014
22
Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel. ( 25667898 )
2014
23
The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease. ( 24430976 )
2014
24
Increased Oxidative Stress and Impaired Antioxidant Response in Lafora Disease. ( 24838580 )
2014
25
Lafora Disease With Novel Autopsy Findings: A Case Report With Endocrine Involvement and Literature Review. ( 25217339 )
2014
26
Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease. ( 24472629 )
2014
27
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings. ( 25270369 )
2014
28
Late onset Lafora disease and novel EPM2A mutations: Breaking paradigms. ( 25246353 )
2014
29
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells. ( 23850970 )
2013
30
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
31
Inhibiting glycogen synthesis prevents lafora disease in a mouse model. ( 23913475 )
2013
32
Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons. ( 23546741 )
2013
33
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. ( 23663739 )
2013
34
A bioassay for Lafora disease and laforin glucan phosphatase activity. ( 24012855 )
2013
35
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
36
Exploring the structural insights on human laforin mutation K87A in Lafora disease--a molecular dynamics study. ( 23904258 )
2013
37
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease. ( 24131995 )
2013
38
[Lafora disease: histopathological study of axillary cutaneous biopsy]. ( 23582833 )
2013
39
Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease. ( 23408434 )
2013
40
Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene. ( 23317923 )
2013
41
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease. ( 22669944 )
2012
42
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease. ( 22361617 )
2012
43
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. ( 23131811 )
2012
44
Phosphorylation prevents polyglucosan transport in Lafora disease. ( 22622857 )
2012
45
Autophagy defects in Lafora disease: cause or consequence? ( 22301990 )
2012
46
Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. ( 21965301 )
2012
47
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. ( 22047982 )
2012
48
Presentation of an unusual patient with Lafora disease. ( 22425593 )
2012
49
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. ( 21798009 )
2011
50
A PTG variant contributes to a milder phenotype in Lafora disease. ( 21738631 )
2011

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

Sources for Progressive Myoclonus Epilepsy, Lafora Type

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