PME
MCID: PRG011
MIFTS: 42

Progressive Myoclonus Epilepsy (PME)

Categories: Genetic diseases, Nephrological diseases, 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 71
Progressive Myoclonic Epilepsy 12
Unverricht-Lundborg Syndrome 71
Pme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:891
MeSH 43 D020191
NCIt 49 C7636
SNOMED-CT 67 89480000
UMLS 71 C0751778 C0751785

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 progressive myoclonus epilepsy, lafora type and prickle1-related progressive myoclonus epilepsy with ataxia, and has symptoms including ataxia and myoclonus. An important gene associated with Progressive Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1), and among its related pathways/superpathways are Glucose metabolism and Lysosome. The drugs Brivaracetam and Zonisamide have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and liver, and related phenotypes are behavior/neurological and muscle

Wikipedia : 74 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 4 Progressive Myoclonus Epilepsy 10
Progressive Myoclonus Epilepsy 3 Progressive Myoclonus Epilepsy 7
Progressive Myoclonus Epilepsy 1b Progressive Myoclonus Epilepsy 6
Progressive Myoclonus Epilepsy 9 Progressive Myoclonus Epilepsy 8
Progressive Myoclonus Epilepsy 1a Progressive Myoclonus Epilepsy

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

(show top 50) (show all 213)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 35.1 NHLRC1 EPM2A
2 prickle1-related progressive myoclonus epilepsy with ataxia 35.0 TBC1D24 PRICKLE1
3 myoclonic epilepsy of unverricht and lundborg 33.7 SCARB2 GOSR2 EPM2A CSTB
4 epilepsy, progressive myoclonic, 1b 33.2 TBC1D24 PRICKLE1
5 myoclonic epilepsy of lafora 32.9 PRDM8 NHLRC1 GYS1 GBE1 EPM2AIP1 EPM2A
6 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.2 CLN6 CLN3
7 unverricht-lundborg syndrome 32.1 SCARB2 PRICKLE1 PRDM8 NHLRC1 KCNC1 GOSR2
8 myoclonus epilepsy 31.8 TRAPPC10 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
9 myoclonus 31.5 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7 EPM2AIP1
10 early myoclonic encephalopathy 31.1 TBC1D24 NHLRC1 KCTD7 EPM2A CSTB
11 glycoproteinosis 30.9 NHLRC1 CSTB CLN6
12 neuronal ceroid-lipofuscinoses 30.8 CLN6 CLN5 CLN3
13 epilepsy, myoclonic juvenile 30.6 NHLRC1 EPM2A CSTB
14 ceroid storage disease 30.6 CLN6 CLN5 CLN3
15 neuronal ceroid lipofuscinosis 30.6 KCTD7 CLN6 CLN5 CLN3
16 glycogen storage disease iv 30.4 NHLRC1 GBE1 EPM2A
17 ceroid lipofuscinosis, neuronal, 3 30.4 KCTD7 CLN6 CLN5 CLN3
18 cerebral atrophy 30.3 CLN6 CLN3
19 myoclonic epilepsy associated with ragged-red fibers 30.3 PRDM8 KCTD7 GOSR2 EPM2A CSTB
20 ceroid lipofuscinosis, neuronal, 6 30.2 CLN6 CLN5
21 dementia 30.2 SERPINI1 NHLRC1 EPM2A CSTB CLN5
22 visual epilepsy 30.1 NHLRC1 KCTD7 GOSR2 EPM2A CLN6 CLN5
23 lysosomal storage disease 29.9 CTSB CLN6 CLN5 CLN3
24 epilepsy 28.6 TRAPPC10 TBC1D24 SERPINI1 SCARB2 PRICKLE1 PRDM8
25 spinal muscular atrophy with progressive myoclonic epilepsy 13.0
26 progressive myoclonus epilepsy 6 12.8
27 progressive myoclonus epilepsy 3 12.8
28 progressive myoclonus epilepsy 4 12.7
29 progressive myoclonus epilepsy 7 12.7
30 progressive myoclonus epilepsy 9 12.7
31 progressive myoclonus epilepsy 8 12.7
32 progressive myoclonus epilepsy 10 12.6
33 progressive myoclonus epilepsy 1b 12.4
34 progressive myoclonus epilepsy 1a 12.4
35 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.4
36 epilepsy, progressive myoclonic, 4, with or without renal failure 11.9
37 epilepsy, progressive myoclonic, 6 11.9
38 epilepsy, progressive myoclonic 7 11.7
39 epilepsy, progressive myoclonic, 8 11.7
40 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.7
41 epilepsy, progressive myoclonic, 9 11.7
42 encephalopathy, familial, with neuroserpin inclusion bodies 11.6
43 epilepsy, progressive myoclonic, 10 11.6
44 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.4
45 epileptic encephalopathy, early infantile, 16 11.4
46 epilepsy progressive myoclonic type 3 11.4
47 ataxia and polyneuropathy, adult-onset 10.8
48 autosomal recessive disease 10.5
49 seizure disorder 10.4
50 gaucher disease, type i 10.3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.09 CLN3 CLN6 CSTB CTSB EPM2A EPM2AIP1
2 muscle MP:0005369 9.56 CSTB EPM2A EPM2AIP1 GBE1 GYS1 KCNC1
3 nervous system MP:0003631 9.5 CLN3 CLN5 CLN6 CSTB CTSB EPM2A

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
2
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Pharmaceutical Solutions Phase 3
5 Immunologic Factors Phase 3
6 Rho(D) Immune Globulin Phase 3
7 Immunoglobulins Phase 3
8 Immunoglobulins, Intravenous Phase 3
9 Antibodies Phase 3
10 gamma-Globulins Phase 3
11 Anticonvulsants Phase 3
12 Calcium, Dietary Phase 3
13 calcium channel blockers Phase 3
14 Hormones Phase 3
15
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
16
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
17 Dopamine Agents Phase 2
18 Neurotransmitter Agents Phase 2
19 Dopamine agonists Phase 2
20 Antiparkinson Agents Phase 2
21
protease inhibitors
22 HIV Protease Inhibitors
23 Serine Proteinase Inhibitors
24 Serpins
25 Neuroserpin
26
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Unknown status NCT03351569 Phase 3 Intravenous immunoglobulin
2 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥ 16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
3 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
4 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
5 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
6 Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies Completed NCT00006176
7 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

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:

40
Cortex, Brain, Liver, Thyroid, Skin, Cerebellum, Retina

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 516)
# Title Authors PMID Year
1
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. 61
31758957 2020
2
High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. 61
31561936 2020
3
Automatic assessment of the myoclonus severity from videos recorded according to standardized Unified Myoclonus Rating Scale protocol and using human pose and body movement analysis. 61
32035366 2020
4
FDG-PET assessment and metabolic patterns in Lafora disease. 61
31858178 2019
5
Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. 61
31808062 2019
6
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia. 61
31682953 2019
7
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019
8
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. 61
30954670 2019
9
An Italian multicentre study of perampanel in progressive myoclonus epilepsies. 61
31446282 2019
10
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 61
31368437 2019
11
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. 61
31353855 2019
12
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. 61
31353862 2019
13
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. 61
31035234 2019
14
Treatment with metformin in twelve patients with Lafora disease. 61
31227012 2019
15
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1. 61
30564977 2019
16
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
17
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation. 61
30660924 2019
18
Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress. 61
30669344 2019
19
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. 61
30561534 2019
20
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. 61
31551911 2019
21
[Lafora disease: a review of the literature]. 61
30638256 2019
22
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. 61
30598679 2019
23
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 61
30382391 2019
24
Autistic features in Unverricht-Lundborg disease. 61
31463470 2019
25
PRICKLE1-related early onset epileptic encephalopathy. 61
30345727 2018
26
Lafora Disease: A Review of Molecular Mechanisms and Pathology. 61
30336494 2018
27
Lafora disease - from pathogenesis to treatment strategies. 61
30143794 2018
28
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]. 61
30025895 2018
29
Biochemical and clinical aspects of glycogen storage diseases. 61
29875163 2018
30
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. 61
29978618 2018
31
Lafora Disease: A Ubiquitination-Related Pathology. 61
30050012 2018
32
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. 61
29941711 2018
33
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. 61
29408991 2018
34
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. 61
29605618 2018
35
Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1. 61
29396360 2018
36
The unique evolution of the carbohydrate-binding module CBM20 in laforin. 61
29389008 2018
37
[Progressive myoclonic epilepsy secondary to Lafora's body disease]. 61
30504111 2018
38
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. 61
30083360 2018
39
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease. 61
28688606 2018
40
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. 61
29148226 2017
41
Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. 61
28978487 2017
42
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant. 61
28688853 2017
43
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. 61
28800070 2017
44
Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models. 61
27041370 2017
45
Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients. 61
27785699 2017
46
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. 61
28264719 2017
47
Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa. 61
30838261 2017
48
Movement-activated cortical myoclonus in Dravet syndrome. 61
28126647 2017
49
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 61
27742667 2016
50
Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy. 61
27894304 2016

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 9.5 NHLRC1 GOSR2 EPM2AIP1 EPM2A CLN6 CLN5
2 lysosome GO:0005764 9.46 SCARB2 CTSB CLN5 CLN3
3 cytoplasmic side of endoplasmic reticulum membrane GO:0098554 8.62 EPM2AIP1 EPM2A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of protein kinase activity GO:0045859 9.43 NHLRC1 EPM2A
2 negative regulation of proteolysis GO:0045861 9.4 CSTB CLN3
3 regulation of protein localization to plasma membrane GO:1903076 9.37 NHLRC1 EPM2A
4 lysosomal lumen acidification GO:0007042 9.33 CLN6 CLN5 CLN3
5 regulation of protein ubiquitination GO:0031396 9.32 NHLRC1 EPM2A
6 cellular macromolecule metabolic process GO:0044260 9.26 NHLRC1 EPM2A
7 glycogen metabolic process GO:0005977 9.26 NHLRC1 GYS1 GBE1 EPM2A
8 glycogen biosynthetic process GO:0005978 8.92 NHLRC1 GYS1 GBE1 EPM2A

Molecular functions related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 TRAPPC10 TBC1D24 SCARB2 PRICKLE1 PRDM8 NHLRC1
2 glycogen (starch) synthase activity GO:0004373 8.62 GYS1 EPM2A

Sources for Progressive Myoclonus Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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