MCID: MYC026
MIFTS: 32

Myoclonus Epilepsy

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Myoclonus Epilepsy

MalaCards integrated aliases for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 50
Epilepsies, Myoclonic 69

Classifications:



Summaries for Myoclonus Epilepsy

MalaCards based summary : Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to progressive myoclonus epilepsy and prickle1-related progressive myoclonus epilepsy with ataxia, and has symptoms including myoclonus and seizures. 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 63)
id Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy 12.3
2 prickle1-related progressive myoclonus epilepsy with ataxia 12.3
3 progressive myoclonus epilepsy, lafora type 12.3
4 myoclonus epilepsy partial seizure 11.9
5 unverricht-lundborg syndrome 11.7
6 epilepsy, progressive myoclonic 2b 11.4
7 dentatorubro-pallidoluysian atrophy 11.1
8 mitochondrial disorders 11.1
9 gosr2-related progressive myoclonus ataxia 11.1
10 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.0
11 epilepsy, progressive myoclonic 7 11.0
12 epilepsy, progressive myoclonic 6 11.0
13 myoclonic epilepsy associated with ragged-red fibers 11.0
14 epilepsy 10.9
15 myoclonus 10.9
16 epilepsy, generalized, with febrile seizures plus, type 5 10.8
17 epileptic encephalopathy, early infantile, 6 10.8
18 epilepsy, progressive myoclonic 4, with or without renal failure 10.8
19 myoclonic epilepsy, infantile, familial 10.8
20 epileptic encephalopathy, early infantile, 16 10.8
21 epilepsy, progressive myoclonic, 9 10.8
22 epilepsy, progressive myoclonic, 8 10.8
23 moved to {607459} 10.8
24 progressive myoclonic epilepsy 5 10.8
25 epm2a-related lafora disease 10.8
26 nhlrc1-related lafora disease 10.8
27 myoclonic epilepsy in non-progressive encephalopathies 10.8
28 myoclonic epilepsy of infancy 10.8
29 benign adult familial myoclonic epilepsy 10.8
30 epilepsy, progressive myoclonic, 10 10.8
31 ataxia 10.2
32 neuronitis 10.1
33 gingival overgrowth 10.1 CSTB EPM2A
34 dementia 9.8
35 idiopathic generalized epilepsy 9.8
36 myopathy 9.8
37 neuropathy 9.8
38 encephalopathy 9.8
39 cerebellar ataxia 9.6
40 friedreich ataxia 9.6
41 pick disease 9.6
42 down syndrome 9.6
43 fragile x syndrome 9.6
44 neuronal ceroid-lipofuscinoses 9.6
45 glycogen storage disease 9.6
46 hepatitis 9.6
47 niemann-pick disease 9.6
48 congenital generalized lipodystrophy 9.6
49 status epilepticus 9.6
50 childhood absence epilepsy 9.6

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, seizures

MGI Mouse Phenotypes related to Myoclonus Epilepsy:

44
id 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 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved 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 Anticonvulsants Phase 3,Phase 2
6 Neuroprotective Agents Phase 3
7 Nootropic Agents Phase 3
8 Protective Agents Phase 3
9 Pharmaceutical Solutions Phase 3
10 Antioxidants Phase 3
11
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
12
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
13
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
14 Antiparkinson Agents Phase 2
15 Dopamine Agents Phase 2
16 Dopamine agonists Phase 2
17 Neurotransmitter Agents Phase 2
18 Convulsants
19 HIV Protease Inhibitors
20 Neuroserpin
21
protease inhibitors
22 Serine Proteinase Inhibitors
23 insulin
24 Insulin, Globin Zinc
25 Ubiquinone
26 serine Nutraceutical

Interventional clinical trials:

(show all 21)

id 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 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
5 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
6 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
7 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
8 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
9 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
10 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
11 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
12 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
13 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
14 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589
15 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
16 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729
17 Epilepsy Motion Sensing Completed NCT01850498
18 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
19 Ketogenic Diet in Lafora Disease Completed NCT00007124
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 48 :


Genetic Tests for Myoclonus Epilepsy

Anatomical Context for Myoclonus Epilepsy

MalaCards organs/tissues related to Myoclonus Epilepsy:

39
Brain, Cortex, Globus Pallidus, Skeletal Muscle

Publications for Myoclonus Epilepsy

Articles related to Myoclonus Epilepsy:

(show top 50) (show all 328)
id Title Authors Year
1
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties. ( 28380698 )
2017
2
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
3
Update on pharmacological treatment of Progressive Myoclonus Epilepsies. ( 28799509 )
2017
4
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. ( 27368338 )
2016
5
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
6
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
7
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860 )
2016
8
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
9
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
10
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
11
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
12
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
13
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
14
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
15
The history of progressive myoclonus epilepsies. ( 27621064 )
2016
16
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
17
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
18
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
19
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
20
Somatosensory-evoked potential modulation by quadripulse transcranial magnetic stimulation in patients with benign myoclonus epilepsy. ( 26431618 )
2015
21
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
22
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
23
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
24
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
25
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
26
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
27
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? ( 25337734 )
2014
28
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
29
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
30
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ( 23955123 )
2013
31
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
32
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
33
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
34
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. ( 23788720 )
2013
35
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
36
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
37
Progressive myoclonus epilepsy. ( 23622396 )
2013
38
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
39
Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. ( 24184691 )
2013
40
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
41
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
42
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
43
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
44
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
45
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. ( 22883287 )
2012
46
Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy. ( 22150818 )
2012
47
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. ( 22036712 )
2012
48
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. ( 22693283 )
2012
49
Progressive myoclonus epilepsy of Lafora ( 22787674 )
2012
50
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. ( 22157618 )
2012

Variations for Myoclonus Epilepsy

Copy number variations for Myoclonus Epilepsy from CNVD:

7
id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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