MCID: PRG011
MIFTS: 40

Progressive Myoclonus Epilepsy

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 74
Progressive Myoclonic Epilepsy 12
Unverricht-Lundborg Syndrome 74
Pme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:891
MeSH 45 D020191
NCIt 51 C7636
SNOMED-CT 69 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 myoclonic epilepsy of lafora and unverricht-lundborg syndrome, 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 : 77 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 81)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 33.0 CSTB EPM2A NHLRC1
2 unverricht-lundborg syndrome 32.0 CSTB EPM2A KCNC1 NHLRC1 PRDM8 PRICKLE1
3 myoclonic epilepsy of unverricht and lundborg 31.5 CSTB EPM2A GOSR2 SCARB2
4 early myoclonic encephalopathy 31.3 CSTB EPM2A
5 myoclonus 30.7 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
6 myoclonus epilepsy 30.5 CSTB EPM2A LOC109029533 NHLRC1 PRDM8 PRICKLE1
7 dementia 29.3 CSTB NHLRC1 SERPINI1
8 epilepsy 28.8 CSTB EPM2A GOSR2 KCNC1 KCTD7 LOC109029533
9 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
10 prickle1-related progressive myoclonus epilepsy with ataxia 12.7
11 progressive myoclonus epilepsy, lafora type 12.7
12 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.3
13 epilepsy, progressive myoclonic, 4, with or without renal failure 11.8
14 epilepsy, progressive myoclonic, 6 11.8
15 gosr2-related progressive myoclonus ataxia 11.8
16 epilepsy, progressive myoclonic, 8 11.6
17 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.6
18 epilepsy, progressive myoclonic 7 11.6
19 epilepsy, progressive myoclonic, 9 11.6
20 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
21 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.3
22 epilepsy, progressive myoclonic, 1b 11.3
23 epileptic encephalopathy, early infantile, 16 11.3
24 epilepsy progressive myoclonic type 3 11.3
25 epilepsy, progressive myoclonic, 10 11.1
26 gaucher disease, type iii 11.1
27 blood group, gerbich system 10.3
28 retinitis pigmentosa 10.1
29 leber congenital amaurosis 4 10.1
30 retinitis 10.1
31 jankovic rivera syndrome 10.1
32 supranuclear ocular palsy 10.1
33 dentatorubral-pallidoluysian atrophy 10.1
34 ataxia and polyneuropathy, adult-onset 10.1
35 gaucher's disease 10.1
36 peripheral nervous system disease 10.1
37 neuropathy 10.1
38 encephalopathy 10.1
39 farber lipogranulomatosis 10.0
40 bipolar disorder 10.0
41 pontocerebellar hypoplasia 10.0
42 proximal spinal muscular atrophy 10.0
43 myoclonus and ataxia 10.0
44 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0
45 leigh syndrome 10.0
46 mitochondrial complex v deficiency, mitochondrial type 1 10.0
47 neuropathy, ataxia, and retinitis pigmentosa 10.0
48 combined oxidative phosphorylation deficiency 27 10.0
49 west syndrome 10.0
50 lennox-gastaut 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CLN6 CSTB EPM2A EPM2AIP1 GOSR2 KCNC1
2 muscle MP:0005369 9.43 CSTB EPM2A EPM2AIP1 KCNC1 NHLRC1 PRICKLE1
3 nervous system MP:0003631 9.23 CLN6 CSTB EPM2A KCNC1 NHLRC1 PRDM8

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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

(show all 23)
# 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 Immunologic Factors Phase 3
5 Immunoglobulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Rho(D) Immune Globulin Phase 3
8 gamma-Globulins Phase 3
9 Antibodies Phase 3
10
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
11
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
12 Neurotransmitter Agents Phase 2
13 Dopamine Agents Phase 2
14 Antiparkinson Agents Phase 2
15 Dopamine agonists Phase 2
16
Serine Approved, Nutraceutical 56-45-1 5951
17
protease inhibitors
18 HIV Protease Inhibitors
19 Serpins
20 Neuroserpin
21 Serine Proteinase Inhibitors
22 insulin
23 Insulin, Globin Zinc

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
6 Ketogenic Diet in Lafora Disease Completed NCT00007124
7 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
8 Natural History and Functional Status Study of Patients With Lafora Disease Recruiting NCT03876522

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:

42
Brain, Cortex

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 217)
# Title Authors Year
1
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. ( 31035234 )
2019
2
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. ( 30954670 )
2019
3
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. ( 30767895 )
2019
4
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation. ( 30660924 )
2019
5
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ( 30382391 )
2019
6
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. ( 30500434 )
2018
7
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
8
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. ( 29941711 )
2018
9
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. ( 29605618 )
2018
10
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
11
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
12
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
13
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
14
Spinal muscular atrophy associated with progressive myoclonus epilepsy. ( 27647482 )
2016
15
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
16
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
17
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
18
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
19
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
20
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
21
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
22
Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
23
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
24
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
25
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
26
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
27
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
28
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2015
29
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2015
30
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
31
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. ( 24485911 )
2014
32
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
33
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
34
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2014
35
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
36
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
37
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
38
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
39
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
40
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
41
Progressive myoclonus epilepsy. ( 23622396 )
2013
42
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
43
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. ( 23788720 )
2013
44
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
45
Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease. ( 22622859 )
2012
46
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. ( 22815132 )
2012
47
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. ( 22883287 )
2012
48
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. ( 22036712 )
2012
49
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. ( 22157618 )
2012
50
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. ( 22369717 )
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

Cellular components related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.02 CLN6 EPM2A EPM2AIP1 GOSR2 NHLRC1

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 8.96 NHLRC1 PRICKLE1
2 glycogen biosynthetic process GO:0005978 8.62 EPM2A NHLRC1

Sources for Progressive Myoclonus Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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