PME
MCID: PRG011
MIFTS: 38

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 72
Progressive Myoclonic Epilepsy 12
Unverricht-Lundborg Syndrome 72
Pme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:891
MeSH 44 D020191
NCIt 50 C7636
SNOMED-CT 68 89480000
UMLS 72 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 myoclonic epilepsy of unverricht and lundborg 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 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 : 75 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 191)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 32.7 SCARB2 GOSR2 EPM2A CSTB
2 myoclonic epilepsy of lafora 32.6 NHLRC1 GBE1 EPM2A CSTB
3 unverricht-lundborg syndrome 31.8 SCARB2 PRICKLE1 NHLRC1 KCNC1 EPM2A CSTB
4 early myoclonic encephalopathy 30.7 EPM2A CSTB
5 myoclonus epilepsy 30.5 SCARB2 PRICKLE1 NHLRC1 LOC109029533 EPM2A CSTB
6 myoclonus 30.3 SCARB2 PRICKLE1 NHLRC1 KCTD7 EPM2A CSTB
7 dementia 29.8 SERPINI1 NHLRC1 CSTB
8 epilepsy 27.4 SERPINI1 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7
9 spinal muscular atrophy with progressive myoclonic epilepsy 12.9
10 prickle1-related progressive myoclonus epilepsy with ataxia 12.9
11 progressive myoclonus epilepsy, lafora type 12.9
12 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.4
13 epilepsy, progressive myoclonic, 4, with or without renal failure 11.9
14 gosr2-related progressive myoclonus ataxia 11.9
15 epilepsy, progressive myoclonic, 6 11.9
16 epilepsy, progressive myoclonic, 1b 11.7
17 epilepsy, progressive myoclonic, 8 11.7
18 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.7
19 epilepsy, progressive myoclonic 7 11.7
20 epilepsy, progressive myoclonic, 9 11.7
21 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.7
22 epilepsy, progressive myoclonic, 10 11.6
23 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.4
24 epileptic encephalopathy, early infantile, 16 11.4
25 epilepsy progressive myoclonic type 3 11.4
26 ataxia and polyneuropathy, adult-onset 10.8
27 autosomal recessive disease 10.5
28 neuronal ceroid lipofuscinosis 10.4
29 visual epilepsy 10.4
30 seizure disorder 10.4
31 gaucher disease, type i 10.3
32 neuronal ceroid-lipofuscinoses 10.3
33 gaucher's disease 10.3
34 dentatorubral-pallidoluysian atrophy 10.3
35 myoclonus and ataxia 10.3
36 neuraminidase deficiency 10.3
37 status epilepticus 10.3
38 glycoproteinosis 10.3
39 peripheral nervous system disease 10.3
40 neuropathy 10.3
41 down syndrome 10.2
42 ceroid lipofuscinosis, neuronal, 3 10.2
43 scoliosis 10.2
44 glycogen storage disease 10.2
45 kidney disease 10.2
46 mitochondrial encephalomyopathy 10.2
47 chromosomal triplication 10.2
48 encephalopathy 10.2
49 retinitis pigmentosa 10.2
50 sensorineural hearing loss 10.2

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 9.9 CLN6 CSTB EPM2A EPM2AIP1 GBE1 GOSR2
2 muscle MP:0005369 9.5 CSTB EPM2A EPM2AIP1 GBE1 KCNC1 NHLRC1
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 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 Anticonvulsants Phase 3
5 Hormones Phase 3
6 calcium channel blockers Phase 3
7 Calcium, Dietary Phase 3
8 Antibodies Phase 3
9 Immunologic Factors Phase 3
10 gamma-Globulins Phase 3
11 Immunoglobulins Phase 3
12 Pharmaceutical Solutions Phase 3
13 Immunoglobulins, Intravenous Phase 3
14 Rho(D) Immune Globulin Phase 3
15
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
16
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 5095 497540
17 Neurotransmitter Agents Phase 2
18 Dopamine Agents Phase 2
19 Dopamine agonists Phase 2
20 Antiparkinson Agents Phase 2
21
Serine Approved, Nutraceutical 56-45-1 5951
22 Serpins
23 HIV Protease Inhibitors
24 Serine Proteinase Inhibitors
25 Neuroserpin
26
protease inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
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:

41
Brain, Cortex, Skin, Liver, Retina, Cerebellum

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 507)
# Title Authors PMID Year
1
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 38
31368437 2019
2
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. 38
31353862 2019
3
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. 38
31035234 2019
4
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. 38
31353855 2019
5
Treatment with metformin in twelve patients with Lafora disease. 38
31227012 2019
6
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. 38
30954670 2019
7
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1. 38
30564977 2019
8
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 38
30767895 2019
9
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation. 38
30660924 2019
10
Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress. 38
30669344 2019
11
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. 38
30561534 2019
12
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 38
30382391 2019
13
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. 38
30598679 2019
14
[Lafora disease: a review of the literature]. 38
30638256 2019
15
Lafora Disease: A Review of Molecular Mechanisms and Pathology. 38
30336494 2018
16
PRICKLE1-related early onset epileptic encephalopathy. 38
30345727 2018
17
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 38
30500434 2018
18
Lafora disease - from pathogenesis to treatment strategies. 38
30143794 2018
19
Biochemical and clinical aspects of glycogen storage diseases. 38
29875163 2018
20
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]. 38
30025895 2018
21
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. 38
29978618 2018
22
Lafora Disease: A Ubiquitination-Related Pathology. 38
30050012 2018
23
Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. 38
29941711 2018
24
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. 38
29408991 2018
25
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. 38
29605618 2018
26
Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1. 38
29396360 2018
27
The unique evolution of the carbohydrate-binding module CBM20 in laforin. 38
29389008 2018
28
[Progressive myoclonic epilepsy secondary to Lafora's body disease]. 38
30504111 2018
29
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. 38
30083360 2018
30
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease. 38
28688606 2018
31
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. 38
29148226 2017
32
Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. 38
28978487 2017
33
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant. 38
28688853 2017
34
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. 38
28800070 2017
35
Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models. 38
27041370 2017
36
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. 38
27785699 2017
37
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. 38
28264719 2017
38
Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa. 38
30838261 2017
39
Movement-activated cortical myoclonus in Dravet syndrome. 38
28126647 2017
40
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. 38
27742667 2016
41
Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy. 38
27894304 2016
42
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. 38
27632409 2016
43
First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. 38
27165443 2016
44
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. 38
27618929 2016
45
Unverricht-Lundborg disease. 38
27582036 2016
46
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. 38
27629860 2016
47
KCTD7-related progressive myoclonus epilepsy. 38
27629772 2016
48
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). 38
27618835 2016
49
MELAS and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions. 38
29430542 2016
50
Lafora disease. 38
27702709 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 9.02 NHLRC1 GOSR2 EPM2AIP1 EPM2A CLN6

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 PRICKLE1 NHLRC1
2 glycogen metabolic process GO:0005977 8.96 GBE1 EPM2A
3 glycogen biosynthetic process GO:0005978 8.8 NHLRC1 GBE1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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