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 Ethanol and Piracetam 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 CERS1 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1
3 growth/size/body region MP:0005378 9.63 ATN1 CERS1 CSTB EPM2A PRICKLE1 SCARB2
4 nervous system MP:0003631 9.56 PRICKLE1 SCARB2 ATN1 CERS1 CSTB EPM2A
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 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3,Phase 2 64-17-5 702
2 Piracetam Approved, Investigational Phase 3 7491-74-9
3
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
4
Stiripentol Approved Phase 3 49763-96-4
5
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
6
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
7 Strawberry Approved, Nutraceutical Phase 3,Phase 2
8 Etiracetam Investigational Phase 3 33996-58-6
9 Neurotransmitter Agents Phase 3,Phase 2
10 Neuroprotective Agents Phase 3
11 Nootropic Agents Phase 3
12 Anticonvulsants Phase 3,Phase 2
13 Pharmaceutical Solutions Phase 3,Phase 2
14 Protective Agents Phase 3,Not Applicable
15
Serotonin Phase 3 50-67-9 5202
16 Serotonin Agents Phase 3
17 Serotonin Uptake Inhibitors Phase 3
18 Neurotransmitter Uptake Inhibitors Phase 3
19 Rho(D) Immune Globulin Phase 3
20 gamma-Globulins Phase 3
21 Immunoglobulins Phase 3
22 Immunoglobulins, Intravenous Phase 3
23 Antibodies Phase 3
24 Antioxidants Phase 3,Not Applicable
25
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
26
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
27
Verapamil Approved Phase 2 52-53-9 2520
28
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
29 Dopamine agonists Phase 2
30 Dopamine Agents Phase 2
31 Antiparkinson Agents Phase 2
32 calcium channel blockers Phase 2
33 Vasodilator Agents Phase 2
34 Anti-Arrhythmia Agents Phase 2
35 Calcium, Dietary Phase 2
36 Neuroserpin
37 insulin
38
protease inhibitors
39 Serine Proteinase Inhibitors
40 HIV Protease Inhibitors
41 Insulin, Globin Zinc
42 Ubiquinone
43 Turmeric extract Not Applicable
44 Astragalus Nutraceutical
45 serine Nutraceutical
46 Turmeric Nutraceutical Not Applicable

Interventional clinical trials:

(show all 47)

# 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 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P;Placebo control
5 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Recruiting NCT02826863 Phase 3 ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
6 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Recruiting NCT02224703 Phase 3 GWP42003-P;Placebo Control
7 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
8 A Two-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥2 Years Old and Young Adults With Dravet Syndrome Active, not recruiting NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
9 A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
10 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
11 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
13 GWPCARE5 - An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet or Lennox-Gastaut Syndromes Enrolling by invitation NCT02224573 Phase 3 GWP42003-P
14 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
15 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
16 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
17 Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
18 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
19 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
20 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
21 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
22 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
23 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P;Placebo control
24 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
25 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Recruiting NCT02758626 Phase 2 ataluren;Placebo
26 A Study to Assess the Safety and Tolerability of ZX008 in Children and Young Adults With DS or LGS Currently Taking CBD Enrolling by invitation NCT03467113 Phase 1, Phase 2 ZX008 02 and 0.8 mg/kg/day
27 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
28 Genetic Disease Gene Identification Unknown status NCT00916903
29 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
30 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729
31 Epilepsy Motion Sensing Completed NCT01850498
32 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
33 Ketogenic Diet in Lafora Disease Completed NCT00007124
34 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
35 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
36 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
37 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
38 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
39 Cardiac Arrhythmias in Dravet Syndrome Recruiting NCT02415686
40 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
41 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722 Stiripentol
42 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
43 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies Available NCT02239276 Stiripentol
44 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Not yet recruiting NCT02815540 Not Applicable Cannabadiol
45 Turmeric as Treatment in Epilepsy Not yet recruiting NCT03254680 Not Applicable
46 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol
47 The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy Withdrawn NCT02910297

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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