MCID: PRG011
MIFTS: 40

Progressive Myoclonus Epilepsy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy

MalaCards integrated aliases for Progressive Myoclonus Epilepsy:

Name: Progressive Myoclonus Epilepsy 12 14
Progressive Myoclonic Epilepsy [ambiguous] 12
Myoclonic Epilepsies, Progressive 69
Progressive Myoclonic Epilepsy 12
Epilepsy Progressive Myoclonic 72
Unverricht-Lundborg Syndrome 69
Pme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:891
MeSH 41 D020191
NCIt 46 C7636
UMLS 69 C0751778

Summaries for Progressive Myoclonus Epilepsy

MalaCards based summary : Progressive Myoclonus Epilepsy, also known as progressive myoclonic epilepsy [ambiguous], is related to progressive myoclonus epilepsy, lafora type and myoclonic epilepsy of lafora, and has symptoms including myoclonus and ataxia. An important gene associated with Progressive Myoclonus Epilepsy is EPM2A (EPM2A, Laforin Glucan Phosphatase). The drugs Anticonvulsants and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are behavior/neurological and muscle

Wikipedia : 72 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Related Diseases for Progressive Myoclonus Epilepsy

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 34.2 EPM2A NHLRC1
2 myoclonic epilepsy of lafora 32.2 CSTB EPM2A GBE1 NHLRC1
3 myoclonic epilepsy of unverricht and lundborg 31.9 CSTB EPM2A
4 unverricht-lundborg syndrome 31.7 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
5 myoclonus epilepsy 30.4 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
6 myoclonus 30.3 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
7 epilepsy 30.3 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
8 spinal muscular atrophy with progressive myoclonic epilepsy 12.6
9 prickle1-related progressive myoclonus epilepsy with ataxia 12.5
10 epilepsy, progressive myoclonic, 6 11.6
11 gosr2-related progressive myoclonus ataxia 11.6
12 epilepsy, progressive myoclonic, 1b 11.4
13 epilepsy, progressive myoclonic, 4, with or without renal failure 11.1
14 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.1
15 epileptic encephalopathy, early infantile, 16 11.1
16 epilepsy, progressive myoclonic 7 11.1
17 epilepsy, progressive myoclonic, 8 11.1
18 epilepsy, progressive myoclonic, 9 11.1
19 progressive myoclonic epilepsy type 5 11.1
20 epilepsy, progressive myoclonic, 10 11.0
21 ataxia and polyneuropathy, adult-onset 10.3
22 neuronitis 10.2
23 holoprosencephaly 1 10.2 CSTB TRAPPC10
24 neuropathy 9.9
25 encephalopathy 9.9
26 ceroid lipofuscinosis, neuronal, 10 9.9 CLN6 KCTD7
27 early myoclonic encephalopathy 9.9 CSTB EPM2A
28 ceroid lipofuscinosis, neuronal, 11 9.9 CLN6 KCTD7
29 alzheimer disease 9.8
30 dentatorubral-pallidoluysian atrophy 9.8
31 gerstmann-straussler disease 9.8
32 down syndrome 9.8
33 friedreich ataxia 1 9.8
34 mitochondrial myopathy 9.8
35 lipodystrophy, congenital generalized, type 2 9.8
36 fragile x syndrome 9.8
37 aging 9.8
38 neuronal ceroid-lipofuscinoses 9.8
39 glycogen storage disease 9.8
40 hepatitis 9.8
41 congenital generalized lipodystrophy 9.8
42 dementia 9.8
43 autosomal dominant cerebellar ataxia 9.8
44 status epilepticus 9.8
45 myopathy 9.8
46 lipodystrophy 9.8
47 myotonic dystrophy 9.8
48 ceroid lipofuscinosis, neuronal, 1 9.8 CLN6 KCTD7
49 visual epilepsy 9.7 CLN6 KCTD7 NHLRC1

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



Diseases related to Progressive Myoclonus Epilepsy

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy

UMLS symptoms related to Progressive Myoclonus Epilepsy:


myoclonus, ataxia

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CLN6 CSTB EPM2A EPM2AIP1 GBE1 GOSR2
2 muscle MP:0005369 9.43 PRICKLE1 CSTB EPM2A EPM2AIP1 GBE1 NHLRC1
3 nervous system MP:0003631 9.28 CLN6 CSTB EPM2A GBE1 NHLRC1 PRDM8

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticonvulsants Phase 3
2 Rho(D) Immune Globulin Phase 3
3 gamma-Globulins Phase 3
4 Pharmaceutical Solutions Phase 3
5 Immunoglobulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Antibodies Phase 3
8
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
9
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
10 Dopamine agonists Phase 2
11 Neurotransmitter Agents Phase 2
12 Dopamine Agents Phase 2
13 Antiparkinson Agents Phase 2
14
protease inhibitors
15 Serine Proteinase Inhibitors
16 Neuroserpin
17 HIV Protease Inhibitors
18 serine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
2 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
3 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
4 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
5 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176

Search NIH Clinical Center for Progressive Myoclonus Epilepsy

Genetic Tests for Progressive Myoclonus Epilepsy

Anatomical Context for Progressive Myoclonus Epilepsy

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

38
Brain, Cortex

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 218)
# Title Authors Year
1
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
2
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
3
Update on pharmacological treatment of Progressive Myoclonus Epilepsies. ( 28799509 )
2017
4
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
5
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
6
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
7
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
8
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
9
The history of progressive myoclonus epilepsies. ( 27621064 )
2016
10
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
11
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
12
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
13
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
14
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
15
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
16
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
17
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
18
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
19
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
20
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
21
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
22
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
23
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
24
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
25
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
26
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
27
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
28
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
29
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
30
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
31
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
32
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. ( 23788720 )
2013
33
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
34
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
35
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
36
Progressive myoclonus epilepsy. ( 23622396 )
2013
37
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
38
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. ( 22581592 )
2012
39
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
40
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. ( 22883287 )
2012
41
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. ( 22693283 )
2012
42
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. ( 22815132 )
2012
43
Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease. ( 22622859 )
2012
44
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. ( 22369717 )
2012
45
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. ( 22036712 )
2012
46
Progressive myoclonus epilepsy of Lafora ( 22787674 )
2012
47
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers? ( 22456482 )
2012
48
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. ( 22157618 )
2012
49
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. ( 21670406 )
2011
50
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. ( 21505799 )
2011

Variations for Progressive Myoclonus Epilepsy

ClinVar genetic disease variations for Progressive Myoclonus Epilepsy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPM2A NC_000006.12: g.(?_145686102)_(145686316_?)del deletion Pathogenic GRCh38 Chromosome 6, 145686102: 145686316

Expression for Progressive Myoclonus Epilepsy

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy.

Pathways for Progressive Myoclonus Epilepsy

GO Terms for Progressive Myoclonus Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 glycogen metabolic process GO:0005977 9.16 EPM2A GBE1
2 intra-Golgi vesicle-mediated transport GO:0006891 8.96 GOSR2 TRAPPC10
3 glycogen biosynthetic process GO:0005978 8.8 EPM2A GBE1 NHLRC1

Sources for Progressive Myoclonus Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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