MCID: PRG074
MIFTS: 26

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 25 26
Lafora Disease 25 26 74
Lafora Body Disease 25 26
Lafora Type Progressive Myoclonic Epilepsy 26
Epilepsy, Progressive Myoclonic, Lafora 26
Lafora Progressive Myoclonic Epilepsy 26
Lafora Progressive Myoclonus Epilepsy 26
Progressive Myoclonic Epilepsy Type 2 26
Myoclonic Epilepsy of Lafora 26

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UMLS 74 C0751783

Summaries for Progressive Myoclonus Epilepsy, Lafora Type

Genetics Home Reference : 26 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 absence seizures. The drugs Inulin and Cola have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and cortex.

GeneReviews: NBK1389

Related Diseases for Progressive Myoclonus Epilepsy, Lafora Type

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
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
2 Cola Phase 4
3 Soy Bean 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
3 Natural History and Functional Status Study 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:

42
Brain, Skin, Cortex, Testes, Retina

Publications for Progressive Myoclonus Epilepsy, Lafora Type

Articles related to Progressive Myoclonus Epilepsy, Lafora Type:

(show top 50) (show all 184)
# Title Authors Year
1
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. ( 30598679 )
2019
2
Lafora disease in a Malaysian with a rare mutation in the EPM2A gene. ( 30947044 )
2019
3
In vivo glutamate clearance defects in a mouse model of Lafora disease. ( 31108086 )
2019
4
Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance. ( 30701169 )
2018
5
Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion. ( 29444631 )
2018
6
Lafora disease offers a unique window into neuronal glycogen metabolism. ( 29483193 )
2018
7
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom. ( 29610669 )
2018
8
Degradation of altered mitochondria by autophagy is impaired in Lafora disease. ( 29645350 )
2018
9
Extraneurological sparing in long-lived typical Lafora disease. ( 29881811 )
2018
10
Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain". ( 29907606 )
2018
11
Lafora disease: from genotype to phenotype. ( 30027899 )
2018
12
A novel EPM2A mutation yields a slow progression form of Lafora disease. ( 30041081 )
2018
13
Lafora Disease: A Ubiquitination-Related Pathology. ( 30050012 )
2018
14
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. ( 30083360 )
2018
15
Lafora disease - from pathogenesis to treatment strategies. ( 30143794 )
2018
16
Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease. ( 30152044 )
2018
17
Correction to: Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. ( 30207324 )
2018
18
Lafora Disease: A Review of Molecular Mechanisms and Pathology. ( 30336494 )
2018
19
Lafora Disease Masquerading as Hepatic Dysfunction. ( 30498646 )
2018
20
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. ( 30525203 )
2018
21
Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models. ( 27041370 )
2017
22
Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models. ( 28063983 )
2017
23
Everolimus does not prevent Lafora body formation in murine Lafora disease. ( 28097224 )
2017
24
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease. ( 28098937 )
2017
25
Clinical and genetic studies in patients with Lafora disease from Pakistan. ( 28131202 )
2017
26
4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease. ( 28181916 )
2017
27
Corrigendum to "Clinical and genetic studies in patients with Lafora disease from Pakistan"[J. Neurol. Sci. 373 (2017) 263-267]. ( 28320149 )
2017
28
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. ( 28536304 )
2017
29
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report. ( 28556688 )
2017
30
Lafora Disease Is an Inherited Metabolic Cardiomyopathy. ( 28619201 )
2017
31
Lafora disease in miniature Wirehaired Dachshunds. ( 28767715 )
2017
32
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. ( 28800070 )
2017
33
A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood. ( 28818698 )
2017
34
Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family. ( 28934672 )
2017
35
Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease. ( 28973665 )
2017
36
Diagnosis of Lafora Disease by Skin Biopsy. ( 29207724 )
2017
37
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
38
Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease. ( 25627694 )
2016
39
Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin. ( 25683376 )
2016
40
Could a slow progressive form of Lafora disease be associated with a possible third locus? ( 26708063 )
2016
41
Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease. ( 26976331 )
2016
42
Efficacy and tolerability of perampanel in ten patients with Lafora disease. ( 27459034 )
2016
43
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. ( 27574708 )
2016
44
Lafora disease. ( 27702709 )
2016
45
NHLRC1 repeat expansion in two beagles with Lafora disease. ( 27747878 )
2016
46
SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease. ( 29152446 )
2016
47
Unusual Course of Lafora Disease. ( 29588937 )
2016
48
Retinitis pigmentosa in Lafora disease: expanding findings of progressive myoclonic epilepsy. ( 26391413 )
2015
49
Increased oxidative stress and impaired antioxidant response in Lafora disease. ( 24838580 )
2015
50
Three patients with lafora disease: different clinical presentations and a novel mutation. ( 25015673 )
2015

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

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