PME
MCID: PRG011
MIFTS: 40

Progressive Myoclonus Epilepsy (PME)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy

MalaCards integrated aliases for Progressive Myoclonus Epilepsy:

Name: Progressive Myoclonus Epilepsy 12 15
Myoclonic Epilepsies, Progressive 73
Progressive Myoclonic Epilepsy 12
Unverricht-Lundborg Syndrome 73
Pme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:891
MeSH 44 D020191
NCIt 50 C7636
SNOMED-CT 68 89480000

Summaries for Progressive Myoclonus Epilepsy

Disease Ontology : 12 A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.

MalaCards based summary : Progressive Myoclonus Epilepsy, also known as myoclonic epilepsies, progressive, is related to prickle1-related progressive myoclonus epilepsy with ataxia and myoclonic epilepsy of lafora, and has symptoms including ataxia and myoclonus. An important gene associated with Progressive Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). The drugs Brivaracetam and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are behavior/neurological and muscle

Wikipedia : 76 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 top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 prickle1-related progressive myoclonus epilepsy with ataxia 34.2 PRICKLE1 TBC1D24
2 myoclonic epilepsy of lafora 32.8 CSTB EPM2A GBE1 NHLRC1
3 epilepsy, progressive myoclonic, 1b 32.5 PRICKLE1 TBC1D24
4 unverricht-lundborg syndrome 32.5 CSTB EPM2A KCNC1 NHLRC1 PRICKLE1 SCARB2
5 myoclonic epilepsy of unverricht and lundborg 31.7 CSTB EPM2A GOSR2 SCARB2
6 myoclonus epilepsy 31.2 CSTB EPM2A LOC109029533 NHLRC1 PRICKLE1 SCARB2
7 early myoclonic encephalopathy 31.2 CSTB EPM2A TBC1D24
8 myoclonus 31.2 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
9 epilepsy 29.9 CSTB EPM2A GOSR2 KCNC1 KCTD7 LOC109029533
10 dementia 29.6 CSTB NHLRC1 SERPINI1
11 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
12 progressive myoclonus epilepsy, lafora type 12.7
13 epilepsy, progressive myoclonic, 6 11.7
14 gosr2-related progressive myoclonus ataxia 11.7
15 spinal muscular atrophy 11.6
16 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
17 epilepsy, progressive myoclonic, 4, with or without renal failure 11.2
18 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.2
19 epileptic encephalopathy, early infantile, 16 11.2
20 epilepsy, progressive myoclonic 7 11.2
21 epilepsy, progressive myoclonic, 8 11.2
22 epilepsy, progressive myoclonic, 9 11.2
23 progressive myoclonic epilepsy type 5 11.2
24 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.2
25 epilepsy progressive myoclonic type 3 11.2
26 gaucher disease, type iii 11.1
27 encephalopathy, familial, with neuroserpin inclusion bodies 11.1
28 spastic ataxia 5, autosomal recessive 11.1
29 epilepsy, progressive myoclonic, 10 11.1
30 muscular atrophy 10.5
31 retinitis pigmentosa 10.1
32 leber congenital amaurosis 4 10.1
33 retinitis 10.1
34 supranuclear ocular palsy 10.1
35 epilepsy with generalized tonic-clonic seizures 10.1 CSTB TBC1D24
36 gaucher's disease 10.1
37 peripheral nervous system disease 10.1
38 neuropathy 10.1
39 encephalopathy 10.1
40 adolescence-adult electroclinical syndrome 10.1 CSTB TBC1D24
41 farber lipogranulomatosis 10.0
42 proximal spinal muscular atrophy 10.0
43 benign epilepsy with centrotemporal spikes 10.0 CSTB EPM2A TBC1D24
44 myoclonus and ataxia 10.0
45 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0
46 leigh syndrome 10.0
47 lennox-gastaut syndrome 10.0
48 leukodystrophy 10.0
49 fanconi syndrome 10.0
50 nephrotic syndrome 10.0

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:


ataxia, myoclonus

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CLN6 CSTB EPM2A GBE1 GOSR2 KCNC1
2 muscle MP:0005369 9.43 CSTB EPM2A GBE1 KCNC1 NHLRC1 PRICKLE1
3 nervous system MP:0003631 9.23 CLN6 CSTB EPM2A GBE1 KCNC1 NHLRC1

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
2 Anticonvulsants Phase 3
3 Pharmaceutical Solutions Phase 3
4 Immunoglobulins Phase 3
5 Immunoglobulins, Intravenous Phase 3
6 Immunologic Factors Phase 3
7 gamma-Globulins Phase 3
8 Rho(D) Immune Globulin Phase 3
9 Antibodies Phase 3
10
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
11
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 497540 5095
12 Antiparkinson Agents Phase 2
13 Dopamine agonists Phase 2
14 Dopamine Agents Phase 2
15 Neurotransmitter Agents Phase 2
16
Serine Approved, Nutraceutical 56-45-1 5951
17 Serine Proteinase Inhibitors
18 HIV Protease Inhibitors
19
protease inhibitors
20 Neuroserpin

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:

41
Brain, Cortex

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 214)
# Title Authors Year
1
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. ( 29605618 )
2018
2
Identification of a Novel Homozygous Splice-Site Mutation in <i>SCARB2</i> that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. ( 29941711 )
2018
3
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
4
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. ( 30500434 )
2018
5
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ( 30382391 )
2018
6
Corrigendum to "FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy" [Biochem. Biophys. Res. Commun. 474 (2) (2016) 321-327]. ( 30025895 )
2018
7
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
8
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
9
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
10
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
11
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
12
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
13
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
14
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
15
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
16
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
17
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
18
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
19
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
20
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
21
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
22
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
23
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
24
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
25
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
26
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
27
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
28
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
29
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
30
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
31
Progressive myoclonus epilepsy. ( 23622396 )
2013
32
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
33
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
34
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
35
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
36
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
37
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
38
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
39
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. ( 23788720 )
2013
40
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. ( 22036712 )
2012
41
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. ( 22157618 )
2012
42
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. ( 22883287 )
2012
43
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. ( 22581592 )
2012
44
Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease. ( 22622859 )
2012
45
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. ( 22693283 )
2012
46
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers? ( 22456482 )
2012
47
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. ( 22369717 )
2012
48
Progressive myoclonus epilepsy of Lafora ( 22787674 )
2012
49
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. ( 22815132 )
2012
50
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012

Variations for Progressive Myoclonus Epilepsy

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 positive regulation of protein ubiquitination GO:0031398 9.16 NHLRC1 PRICKLE1
2 glycogen metabolic process GO:0005977 8.96 EPM2A GBE1
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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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