MCID: MYC026
MIFTS: 35

Myoclonus Epilepsy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Myoclonus Epilepsy

MalaCards integrated aliases for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 49
Epilepsies, Myoclonic 69

Classifications:



Summaries for Myoclonus Epilepsy

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

Related Diseases for Myoclonus Epilepsy

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 33.5 EPM2A NHLRC1
2 myoclonic epilepsy of lafora 32.1 CSTB EPM2A NHLRC1
3 progressive myoclonus epilepsy 31.2 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
4 myoclonic epilepsy of unverricht and lundborg 31.1 CSTB EPM2A
5 unverricht-lundborg syndrome 30.2 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
6 myoclonus 29.5 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
7 epilepsy 29.4 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
8 prickle1-related progressive myoclonus epilepsy with ataxia 12.4
9 myoclonus epilepsy partial seizure 12.0
10 myoclonic epilepsy associated with ragged-red fibers 11.4
11 epilepsy, progressive myoclonic, 6 11.4
12 gosr2-related progressive myoclonus ataxia 11.4
13 epilepsy, progressive myoclonic 7 11.4
14 epilepsy, progressive myoclonic, 1b 11.3
15 dentatorubral-pallidoluysian atrophy 11.3
16 mitochondrial myopathy 11.2
17 epilepsy, progressive myoclonic, 8 11.0
18 progressive myoclonic epilepsy type 5 11.0
19 epilepsy, progressive myoclonic, 9 11.0
20 myoclonic epilepsy in non-progressive encephalopathies 11.0
21 myoclonic epilepsy of infancy 11.0
22 benign adult familial myoclonic epilepsy 11.0
23 myoclonic epilepsy, familial infantile 11.0
24 epileptic encephalopathy, early infantile, 6 11.0
25 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.0
26 epilepsy, idiopathic generalized 10 11.0
27 epilepsy, progressive myoclonic, 4, with or without renal failure 11.0
28 epileptic encephalopathy, early infantile, 16 11.0
29 epilepsy, progressive myoclonic, 10 10.9
30 ataxia and polyneuropathy, adult-onset 10.3
31 neuronitis 10.2
32 encephalopathy 9.9
33 aging 9.9
34 epilepsy, idiopathic generalized 9.9
35 myopathy 9.9
36 neuropathy 9.9
37 dementia 9.9
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
39 multiple symmetrical lipomatosis 9.7
40 lipomatosis 9.7
41 alzheimer disease 9.7
42 branchiootic syndrome 1 9.7
43 lactic acidosis 9.7
44 gerstmann-straussler disease 9.7
45 aceruloplasminemia 9.7
46 chorea, childhood-onset, with psychomotor retardation 9.7
47 lipomatosis, multiple symmetric 9.7
48 neuronal ceroid-lipofuscinoses 9.7
49 lipodystrophy 9.7
50 lipomatosis, multiple 9.7

Graphical network of the top 20 diseases related to Myoclonus Epilepsy:



Diseases related to Myoclonus Epilepsy

Symptoms & Phenotypes for Myoclonus Epilepsy

UMLS symptoms related to Myoclonus Epilepsy:


myoclonic seizures, myoclonus

MGI Mouse Phenotypes related to Myoclonus Epilepsy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 ATN1 CERS1 CSTB EPM2A NHLRC1 PRDM8
2 cellular MP:0005384 9.73 PRDM8 PRICKLE1 CERS1 CSTB EPM2A NHLRC1
3 growth/size/body region MP:0005378 9.63 ATN1 CERS1 CSTB EPM2A PRICKLE1 SCARB2
4 nervous system MP:0003631 9.56 ATN1 CERS1 CSTB EPM2A NHLRC1 PRDM8
5 no phenotypic analysis MP:0003012 8.92 ATN1 CSTB NHLRC1 PRICKLE1

Drugs & Therapeutics for Myoclonus Epilepsy

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved, Investigational Phase 3 7491-74-9
2
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
3
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
4 Etiracetam Investigational Phase 3 33996-58-6
5 Neuroprotective Agents Phase 3
6 Nootropic Agents Phase 3
7 Anticonvulsants Phase 3,Phase 2
8 Protective Agents Phase 3
9 Rho(D) Immune Globulin Phase 3
10 gamma-Globulins Phase 3
11 Pharmaceutical Solutions Phase 3
12 Immunoglobulins Phase 3
13 Immunoglobulins, Intravenous Phase 3
14 Antibodies Phase 3
15 Antioxidants Phase 3
16
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
17
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
18
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
19 Dopamine agonists Phase 2
20 Neurotransmitter Agents Phase 2
21 Dopamine Agents Phase 2
22 Antiparkinson Agents Phase 2
23 insulin
24
protease inhibitors
25 Serine Proteinase Inhibitors
26 Neuroserpin
27 HIV Protease Inhibitors
28 Insulin, Globin Zinc
29 Ubiquinone
30 serine Nutraceutical

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3 Levetiracetam
2 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
3 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
4 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
5 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
6 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
7 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
8 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
9 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
10 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2 Lacosamide
11 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2 Lacosamide
12 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
13 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
14 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
15 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729
16 Epilepsy Motion Sensing Completed NCT01850498
17 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
18 Ketogenic Diet in Lafora Disease Completed NCT00007124
19 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
20 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
21 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Myoclonus Epilepsy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Myoclonus Epilepsy

Anatomical Context for Myoclonus Epilepsy

MalaCards organs/tissues related to Myoclonus Epilepsy:

38
Brain, Cortex, Globus Pallidus, Skeletal Muscle

Publications for Myoclonus Epilepsy

Articles related to Myoclonus Epilepsy:

(show top 50) (show all 331)
# Title Authors Year
1
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
2
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
3
Update on pharmacological treatment of Progressive Myoclonus Epilepsies. ( 28799509 )
2017
4
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
5
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers. ( 29033892 )
2017
6
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties. ( 28380698 )
2017
7
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
8
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
9
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. ( 27368338 )
2016
10
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860 )
2016
11
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
12
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
13
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
14
The history of progressive myoclonus epilepsies. ( 27621064 )
2016
15
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
16
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
17
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
18
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
19
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
20
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
21
Somatosensory-evoked potential modulation by quadripulse transcranial magnetic stimulation in patients with benign myoclonus epilepsy. ( 26431618 )
2015
22
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
23
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
24
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
25
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
26
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
27
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
28
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
29
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
30
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
31
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
32
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? ( 25337734 )
2014
33
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
34
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
35
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
36
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
37
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
38
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
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
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
41
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
42
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
43
Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. ( 24184691 )
2013
44
Progressive myoclonus epilepsy. ( 23622396 )
2013
45
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
46
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ( 23955123 )
2013
47
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. ( 22581592 )
2012
48
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
49
The protective roles of phosphorylated heat shock protein 27 in human cells harboring myoclonus epilepsy with ragged-red fibers A8344G mtDNA mutation. ( 22742457 )
2012
50
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. ( 22883287 )
2012

Variations for Myoclonus Epilepsy

Copy number variations for Myoclonus Epilepsy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 134789 2 107500000 169500000 Copy number SCN1A myoclonus epilepsy

Expression for Myoclonus Epilepsy

Search GEO for disease gene expression data for Myoclonus Epilepsy.

Pathways for Myoclonus Epilepsy

GO Terms for Myoclonus Epilepsy

Biological processes related to 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 Myoclonus Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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