MCID: MYC026
MIFTS: 34

Myoclonus Epilepsy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonus Epilepsy

MalaCards integrated aliases for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 53
Epilepsies, Myoclonic 73

Classifications:



External Ids:

UMLS 73 C0014550

Summaries for Myoclonus Epilepsy

MalaCards based summary : Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to progressive myoclonus epilepsy and myoclonic epilepsy of lafora, and has symptoms including myoclonus and myoclonic seizures. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). The drugs Piracetam and Brivaracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skeletal muscle, 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 32.6 CSTB EPM2A LOC109029533 NHLRC1 PRICKLE1 SCARB2
2 myoclonic epilepsy of lafora 32.4 CSTB EPM2A NHLRC1
3 unverricht-lundborg syndrome 31.9 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
4 myoclonic epilepsy of unverricht and lundborg 31.3 CSTB EPM2A SCARB2
5 myoclonus 30.5 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
6 epilepsy 30.2 CERS1 CSTB EPM2A LOC109029533 NHLRC1 PRICKLE1
7 prickle1-related progressive myoclonus epilepsy with ataxia 12.6
8 progressive myoclonus epilepsy, lafora type 12.5
9 myoclonus epilepsy partial seizure 12.1
10 myoclonic epilepsy associated with ragged-red fibers 11.6
11 epilepsy, progressive myoclonic, 6 11.6
12 gosr2-related progressive myoclonus ataxia 11.6
13 epilepsy, progressive myoclonic 7 11.6
14 epilepsy, progressive myoclonic, 1b 11.4
15 dentatorubral-pallidoluysian atrophy 11.4
16 mitochondrial myopathy 11.4
17 epilepsy, progressive myoclonic, 4, with or without renal failure 11.1
18 myoclonic epilepsy, familial infantile 11.1
19 epileptic encephalopathy, early infantile, 6 11.1
20 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.1
21 epilepsy, idiopathic generalized 10 11.1
22 epileptic encephalopathy, early infantile, 16 11.1
23 epilepsy, progressive myoclonic, 8 11.1
24 epilepsy, progressive myoclonic, 9 11.1
25 progressive myoclonic epilepsy type 5 11.1
26 myoclonic epilepsy in non-progressive encephalopathies 11.1
27 myoclonic epilepsy of infancy 11.1
28 benign adult familial myoclonic epilepsy 11.1
29 epilepsy, progressive myoclonic, 10 11.0
30 ramsay hunt syndrome i 11.0
31 gaucher's disease 10.1
32 dementia 10.0
33 myopathy 10.0
34 peripheral nervous system disease 10.0
35 neuropathy 10.0
36 encephalopathy 10.0
37 early myoclonic encephalopathy 9.9 CSTB EPM2A
38 benign epilepsy with centrotemporal spikes 9.9 CSTB EPM2A
39 alzheimer disease 9.8
40 gerstmann-straussler disease 9.8
41 lipomatosis, multiple symmetric 9.8
42 myoclonus and ataxia 9.8
43 down syndrome 9.8
44 friedreich ataxia 1 9.8
45 retinitis pigmentosa 9.8
46 lipodystrophy, congenital generalized, type 2 9.8
47 fragile x syndrome 9.8
48 ataxia and polyneuropathy, adult-onset 9.8
49 aging 9.8
50 epilepsy, idiopathic generalized 9.8

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:


myoclonus, myoclonic seizures

MGI Mouse Phenotypes related to Myoclonus Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CERS1 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1
2 cellular MP:0005384 9.63 CERS1 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1
3 muscle MP:0005369 9.26 CSTB EPM2A NHLRC1 PRICKLE1
4 nervous system MP:0003631 9.17 CERS1 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1

Drugs & Therapeutics for Myoclonus Epilepsy

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved, Investigational Phase 3 7491-74-9
2
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
3
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
4
Lacosamide Approved Phase 3,Phase 2 175481-36-4, 860352-01-8 219078
5
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
6 Etiracetam Investigational Phase 3 33996-58-6
7 Nootropic Agents Phase 3
8 Protective Agents Phase 3
9 Neuroprotective Agents Phase 3
10 Anticonvulsants Phase 3,Phase 2
11 Pharmaceutical Solutions Phase 3
12 Immunoglobulins Phase 3
13 Immunoglobulins, Intravenous Phase 3
14 Immunologic Factors Phase 3
15 gamma-Globulins Phase 3
16 Rho(D) Immune Globulin Phase 3
17 Antibodies Phase 3
18 Antioxidants Phase 3
19
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
20
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 497540 5095
21
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
22 Antiparkinson Agents Phase 2
23 Dopamine agonists Phase 2
24 Dopamine Agents Phase 2
25 Neurotransmitter Agents Phase 2
26
Serine Approved, Nutraceutical 56-45-1 5951
27 Serine Proteinase Inhibitors
28 HIV Protease Inhibitors
29
protease inhibitors
30 Neuroserpin
31 Insulin, Globin Zinc
32 insulin
33 Ubiquinone

Interventional clinical trials:

(show all 26)
# 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 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304) Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
5 Long-Term Safety Study of Retigabine Immediate Release (IR) as Adjunctive Therapy in the Treatment of Adults With Partial-Onset Seizures (POS) Completed NCT01336621 Phase 3 Retigabine IR
6 A Efficacy and Safety Study of Adjunctive Perampanel in Primary Generalized Tonic Clonic Seizures Completed NCT01393743 Phase 3 Perampanel;Placebo comparator
7 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
8 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
9 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
10 Assessment of the Efficacy and Safety of 2 Doses of Retigabine Immediate Release (900 mg/Day and 600 mg/Day) Used as Adjunctive Therapy in Adult Asian Subjects With Drug-resistant Partial-onset Seizures Terminated NCT01648101 Phase 3 Retigabine 900mg/day;Retigabine 600mg/day
11 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
12 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
13 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
14 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
15 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
16 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
17 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
18 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
19 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
20 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729 Not Applicable
21 Epilepsy Motion Sensing Completed NCT01850498
22 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
23 Ketogenic Diet in Lafora Disease Completed NCT00007124
24 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
25 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
26 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Myoclonus Epilepsy

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Myoclonus Epilepsy

Anatomical Context for Myoclonus Epilepsy

MalaCards organs/tissues related to Myoclonus Epilepsy:

41
Brain, Cortex, Skeletal Muscle, Globus Pallidus

Publications for Myoclonus Epilepsy

Articles related to Myoclonus Epilepsy:

(show top 50) (show all 332)
# Title Authors Year
1
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. ( 29605618 )
2018
2
Identification of a Novel Homozygous Splice-Site Mutation in <i>SCARB2</i> that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. ( 29941711 )
2018
3
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G&amp;gt;A mutation in the MT-TW gene. ( 29625105 )
2018
4
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
5
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. ( 30500434 )
2018
6
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ( 30382391 )
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
Nationwide survey in Japan endorsed diagnostic criteria of benign adult familial myoclonus epilepsy. ( 30053653 )
2018
9
Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation. ( 29984755 )
2018
10
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
11
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers. ( 29033892 )
2017
12
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
13
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. ( 28380698 )
2017
14
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. ( 27368338 )
2016
15
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
16
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
17
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
18
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
19
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
20
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
21
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
22
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
23
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
24
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
25
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
26
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860 )
2016
27
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
28
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
29
Somatosensory-evoked potential modulation by quadripulse transcranial magnetic stimulation in patients with benign myoclonus epilepsy. ( 26431618 )
2015
30
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
31
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
32
Myoclonus, Epilepsy, and Ataxia Resulting From Potassium Channel Gene Mutation: Expanding the Spectrum Underlying Ramsay Hunt Syndrome. ( 30363511 )
2015
33
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
34
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? ( 25337734 )
2014
35
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
36
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
37
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
38
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
39
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
40
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
41
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
42
Progressive myoclonus epilepsy. ( 23622396 )
2013
43
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
44
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
45
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
46
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
47
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
48
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
49
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
50
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ( 23955123 )
2013

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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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