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
SNOMED-CT 67 267581004
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 prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy, lafora type, 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 brain, cortex and skin, 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 212)
# Related Disease Score Top Affiliating Genes
1 prickle1-related progressive myoclonus epilepsy with ataxia 35.1 TBC1D24 PRICKLE1
2 progressive myoclonus epilepsy, lafora type 35.1 NHLRC1 EPM2A
3 progressive myoclonus epilepsy 6 34.9 GOSR2 EPM2A CSTB
4 spinal muscular atrophy with progressive myoclonic epilepsy 34.7 KCTD7 GOSR2
5 progressive myoclonus epilepsy 7 34.6 KCNC1 CSTB
6 progressive myoclonus epilepsy 3 34.6 KCTD7 CLN6 CLN5
7 progressive myoclonus epilepsy 10 34.5 PRDM8 NHLRC1 EPM2A CSTB
8 progressive myoclonus epilepsy 4 34.5 SCARB2 PRICKLE1 KCTD7 EPM2A CSTB
9 progressive myoclonus epilepsy 1b 34.4 PRICKLE1 KCTD7
10 progressive myoclonus epilepsy 1a 34.3 KCTD7 EPM2A CSTB
11 myoclonic epilepsy of unverricht and lundborg 33.8 SCARB2 GOSR2 EPM2A CSTB
12 epilepsy, progressive myoclonic, 1b 33.3 TBC1D24 PRICKLE1
13 myoclonic epilepsy of lafora 32.8 PRDM8 NHLRC1 GYS1 GBE1 EPM2AIP1 EPM2A
14 ceroid lipofuscinosis, neuronal, 6 32.6 CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.3 CLN6 CLN3
16 unverricht-lundborg syndrome 32.1 SCARB2 PRICKLE1 PRDM8 NHLRC1 KCTD7 KCNC1
17 myoclonus epilepsy 31.8 TRAPPC10 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
18 early myoclonic encephalopathy 31.2 TBC1D24 NHLRC1 KCTD7 EPM2A CSTB
19 myoclonus 31.1 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7 KCNC1
20 glycoproteinosis 31.0 NHLRC1 CSTB CLN6
21 neuronal ceroid-lipofuscinoses 30.8 CLN6 CLN5 CLN3
22 neuronal ceroid lipofuscinosis 30.7 KCTD7 CLN6 CLN5 CLN3
23 ceroid storage disease 30.7 CLN6 CLN5 CLN3
24 epilepsy, myoclonic juvenile 30.7 TBC1D24 NHLRC1 EPM2A CSTB
25 ceroid lipofuscinosis, neuronal, 3 30.5 KCTD7 CLN6 CLN5 CLN3
26 glycogen storage disease iv 30.4 NHLRC1 GBE1 EPM2A
27 dementia 30.2 SERPINI1 NHLRC1 EPM2A CSTB CLN5
28 visual epilepsy 30.2 NHLRC1 KCTD7 GOSR2 EPM2A CLN6 CLN5
29 lysosomal storage disease 30.0 CTSB CLN6 CLN5 CLN3
30 dystonia 29.6 TBC1D24 KCTD7 CSTB CLN6 CLN3
31 epilepsy 28.9 TRAPPC10 TBC1D24 SERPINI1 SCARB2 PRICKLE1 PRDM8
32 progressive myoclonus epilepsy 9 12.7
33 progressive myoclonus epilepsy 8 12.7
34 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.4
35 epilepsy, progressive myoclonic, 4, with or without renal failure 11.9
36 epilepsy, progressive myoclonic, 6 11.9
37 epilepsy, progressive myoclonic 7 11.7
38 epilepsy, progressive myoclonic, 8 11.7
39 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.7
40 epilepsy, progressive myoclonic, 9 11.7
41 encephalopathy, familial, with neuroserpin inclusion bodies 11.6
42 epilepsy, progressive myoclonic, 10 11.6
43 epilepsy, progressive myoclonic, 11 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 20)
# 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 Antibodies Phase 3
4 Rho(D) Immune Globulin Phase 3
5 Immunoglobulins, Intravenous Phase 3
6 Pharmaceutical Solutions Phase 3
7 Immunologic Factors Phase 3
8 gamma-Globulins Phase 3
9 Immunoglobulins Phase 3
10 Anticonvulsants Phase 3
11 Hormones Phase 3
12 Calcium, Dietary Phase 3
13 calcium channel blockers Phase 3
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
16
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 497540 5095
17 Dopamine Agents Phase 2
18 Neurotransmitter Agents Phase 2
19 Dopamine agonists Phase 2
20 Antiparkinson Agents Phase 2

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

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
Brain, Cortex, Skin, Cerebellum, Retina, Liver

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 522)
# Title Authors PMID Year
1
FDG-PET assessment and metabolic patterns in Lafora disease. 61
31858178 2020
2
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy. 61
32378798 2020
3
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. 61
32453490 2020
4
Perampanel for nonepileptic myoclonus in Angelman syndrome. 61
32164978 2020
5
A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease. 61
32342326 2020
6
Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. 61
31808062 2020
7
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. 61
32105965 2020
8
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. 61
31758957 2020
9
Lafora Disease: Report of a Rare Entity. 61
32140352 2020
10
High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. 61
31561936 2020
11
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
12
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019
13
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia. 61
31682953 2019
14
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. 61
30954670 2019
15
An Italian multicentre study of perampanel in progressive myoclonus epilepsies. 61
31446282 2019
16
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 61
31368437 2019
17
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. 61
31353862 2019
18
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. 61
31035234 2019
19
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. 61
31353855 2019
20
Treatment with metformin in twelve patients with Lafora disease. 61
31227012 2019
21
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1. 61
30564977 2019
22
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation. 61
30660924 2019
23
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
24
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. 61
30561534 2019
25
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. 61
30598679 2019
26
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. 61
31551911 2019
27
[Lafora disease: a review of the literature]. 61
30638256 2019
28
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 61
30382391 2019
29
Autistic features in Unverricht-Lundborg disease. 61
31463470 2019
30
Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress. 61
30669344 2019
31
PRICKLE1-related early onset epileptic encephalopathy. 61
30345727 2018
32
Lafora Disease: A Review of Molecular Mechanisms and Pathology. 61
30336494 2018
33
Lafora disease - from pathogenesis to treatment strategies. 61
30143794 2018
34
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
35
Biochemical and clinical aspects of glycogen storage diseases. 61
29875163 2018
36
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. 61
29978618 2018
37
Lafora Disease: A Ubiquitination-Related Pathology. 61
30050012 2018
38
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. 61
29941711 2018
39
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. 61
29408991 2018
40
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. 61
29605618 2018
41
Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1. 61
29396360 2018
42
The unique evolution of the carbohydrate-binding module CBM20 in laforin. 61
29389008 2018
43
[Progressive myoclonic epilepsy secondary to Lafora's body disease]. 61
30504111 2018
44
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. 61
30083360 2018
45
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease. 61
28688606 2018
46
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. 61
29148226 2017
47
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant. 61
28688853 2017
48
Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. 61
28978487 2017
49
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. 61
28800070 2017
50
Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models. 61
27041370 2017

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 lysosome GO:0005764 9.56 SCARB2 CTSB CLN5 CLN3
2 endoplasmic reticulum GO:0005783 9.5 NHLRC1 GOSR2 EPM2AIP1 EPM2A CLN6 CLN5
3 late endosome membrane GO:0031902 9.33 SCARB2 GOSR2 CLN3
4 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 lysosome organization GO:0007040 9.54 CLN6 CLN5 CLN3
2 negative regulation of proteolysis GO:0045861 9.46 CSTB CLN3
3 regulation of protein kinase activity GO:0045859 9.43 NHLRC1 EPM2A
4 regulation of protein localization to plasma membrane GO:1903076 9.43 NHLRC1 EPM2A CLN3
5 regulation of protein ubiquitination GO:0031396 9.4 NHLRC1 EPM2A
6 lysosomal lumen acidification GO:0007042 9.33 CLN6 CLN5 CLN3
7 cellular macromolecule metabolic process GO:0044260 9.32 NHLRC1 EPM2A
8 glycogen metabolic process GO:0005977 9.26 NHLRC1 GYS1 GBE1 EPM2A
9 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 10.09 TRAPPC10 TBC1D24 SCARB2 PRICKLE1 PRDM8 NHLRC1
2 sulfatide binding GO:0120146 8.96 CLN6 CLN3
3 glycogen (starch) synthase activity GO:0004373 8.62 GYS1 EPM2A

Sources for Progressive Myoclonus Epilepsy

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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