Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: MYC026
MIFTS: 36

Myoclonus Epilepsy

Categories: Rare diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Myoclonus Epilepsy

About this section

MalaCards integrated aliases for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 53
Epilepsies, Myoclonic 73

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Myoclonus Epilepsy

About this section
MalaCards based summary : Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to myoclonic epilepsy of lafora and myoclonic epilepsy of unverricht and lundborg, 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 Ezogabine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and globus pallidus, and related phenotypes are behavior/neurological and growth/size/body region

Sources

Related Diseases for Myoclonus Epilepsy

About this section

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 71)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 31.6 CSTB EPM2A NHLRC1
2 myoclonic epilepsy of unverricht and lundborg 31.5 CSTB EPM2A
3 progressive myoclonus epilepsy 30.0 CSTB EPM2A LOC109029533 NHLRC1 PRICKLE1 SCARB2
4 unverricht-lundborg syndrome 29.7 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
5 myoclonus 27.6 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
6 epilepsy 27.6 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
7 prickle1-related progressive myoclonus epilepsy with ataxia 12.4
8 progressive myoclonus epilepsy, lafora type 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 11.2
16 mitochondrial myopathy 11.2
17 epilepsy, idiopathic generalized 10 11.0
18 epilepsy, progressive myoclonic, 4, with or without renal failure 11.0
19 epileptic encephalopathy, early infantile, 16 11.0
20 epilepsy, progressive myoclonic, 8 11.0
21 epilepsy, progressive myoclonic, 9 11.0
22 progressive myoclonic epilepsy type 5 11.0
23 myoclonic epilepsy in non-progressive encephalopathies 11.0
24 myoclonic epilepsy of infancy 11.0
25 myoclonic epilepsy, familial infantile 11.0
26 benign adult familial myoclonic epilepsy 11.0
27 epileptic encephalopathy, early infantile, 6 11.0
28 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.0
29 ramsay hunt syndrome i 10.9
30 epilepsy, progressive myoclonic, 10 10.9
31 neuronitis 10.2
32 gaucher's disease 9.9
33 encephalopathy 9.9
34 aging 9.9
35 epilepsy, idiopathic generalized 9.9
36 myopathy 9.9
37 peripheral nervous system disease 9.9
38 neuropathy 9.9
39 dementia 9.9
40 status epilepticus 9.7
41 childhood absence epilepsy 9.7
42 niemann-pick disease, type c1 9.7
43 ataxia-oculomotor apraxia 3 9.7
44 retinitis pigmentosa 9.7
45 lipodystrophy, congenital generalized, type 2 9.7
46 lipomatosis 9.7
47 myotonia atrophica 9.7
48 fragile x syndrome 9.7
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
50 cerebritis 9.7

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



Diseases related to Myoclonus Epilepsy
Sources

Symptoms & Phenotypes for Myoclonus Epilepsy

About this section

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 9.87 ATN1 CERS1 CSTB EPM2A NHLRC1 PRICKLE1
2 growth/size/body region MP:0005378 9.73 ATN1 CERS1 CSTB EPM2A PRICKLE1 SCARB2
3 nervous system MP:0003631 9.5 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
4 muscle MP:0005369 9.46 CSTB EPM2A NHLRC1 PRICKLE1
5 no phenotypic analysis MP:0003012 8.92 ATN1 CSTB NHLRC1 PRICKLE1
Sources

Drugs & Therapeutics for Myoclonus Epilepsy

About this section

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved, Investigational Phase 3 7491-74-9
2
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
3
Ethanol Approved Phase 3,Phase 2 64-17-5 702
4
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
5
Stiripentol Approved Phase 3 49763-96-4
6
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
7
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
8 Strawberry Approved, Nutraceutical Phase 3,Phase 2
9 Etiracetam Investigational Phase 3 33996-58-6
10 Neurotransmitter Agents Phase 3,Phase 2
11 Neuroprotective Agents Phase 3
12 Nootropic Agents Phase 3
13 Pharmaceutical Solutions Phase 3,Phase 2
14 Anticonvulsants Phase 3,Phase 2
15 Protective Agents Phase 3,Not Applicable
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 Antibodies Phase 3
22 Immunoglobulins Phase 3
23 Immunoglobulins, Intravenous Phase 3
24 Antioxidants Phase 3,Not Applicable
25
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
26
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
27
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
28
Verapamil Approved Phase 2 52-53-9 2520
29
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
30 Dopamine agonists Phase 2
31 Dopamine Agents Phase 2
32 Antiparkinson Agents Phase 2
33 calcium channel blockers Phase 2
34 Anti-Arrhythmia Agents Phase 2
35 Vasodilator Agents Phase 2
36 Calcium, Dietary Phase 2
37
Serine Approved, Nutraceutical 56-45-1 5951
38 Neuroserpin
39 insulin
40
protease inhibitors
41 Serine Proteinase Inhibitors
42 HIV Protease Inhibitors
43 Insulin, Globin Zinc
44 Ubiquinone
45 Astragalus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 52)
# 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 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P;Placebo control
8 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
9 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
10 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
11 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
12 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
13 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
14 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)
15 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)
16 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
17 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
18 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
19 Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
20 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
21 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
22 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
23 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
24 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
25 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
26 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
27 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P;Placebo control
28 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
29 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome Recruiting NCT02758626 Phase 2 ataluren;Placebo
30 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
31 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
32 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
33 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children With Severe Epilepsy Unknown status NCT02815540 Not Applicable Cannabadiol
34 Genetic Disease Gene Identification Unknown status NCT00916903
35 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
36 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729 Not Applicable
37 Epilepsy Motion Sensing Completed NCT01850498
38 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
39 Ketogenic Diet in Lafora Disease Completed NCT00007124
40 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
41 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
42 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
43 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
44 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
45 Cardiac Arrhythmias in Dravet Syndrome Recruiting NCT02415686
46 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
47 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Available NCT01983722 Stiripentol
48 Compassionate Use of Stiripentol in Dravet Syndrome Available NCT01835314 Stiripentol
49 Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies Available NCT02239276 Stiripentol
50 Stiripentol in Dravet Syndrome No longer available NCT01533506 stiripentol

Search NIH Clinical Center for Myoclonus Epilepsy

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

Genetic Tests for Myoclonus Epilepsy

About this section
Sources

Anatomical Context for Myoclonus Epilepsy

About this section

MalaCards organs/tissues related to Myoclonus Epilepsy:

41
Brain, Cortex, Globus Pallidus, Skeletal Muscle
Sources

Publications for Myoclonus Epilepsy

About this section

Articles related to Myoclonus Epilepsy:

(show top 50) (show all 337)
# 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
Pharmacological rescue of mutated K<sub>v</sub>3.1 ion-channel linked to progressive myoclonus epilepsies. ( 29894724 )
2018
5
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
6
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )
2017
7
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers. ( 29033892 )
2017
8
Update on pharmacological treatment of Progressive Myoclonus Epilepsies. ( 28799509 )
2017
9
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226 )
2017
10
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties. ( 28380698 )
2017
11
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. ( 27368338 )
2016
12
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
13
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
14
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
15
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
16
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
17
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167 )
2016
18
The history of progressive myoclonus epilepsies. ( 27621064 )
2016
19
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
20
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
21
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
22
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
23
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
24
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860 )
2016
25
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
26
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970 )
2015
27
Somatosensory-evoked potential modulation by quadripulse transcranial magnetic stimulation in patients with benign myoclonus epilepsy. ( 26431618 )
2015
28
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
29
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
30
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
31
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? ( 25337734 )
2014
32
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
33
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
34
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
35
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
36
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
37
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
38
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
39
Progressive myoclonus epilepsy. ( 23622396 )
2013
40
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
41
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
42
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
43
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
44
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
45
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
46
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
47
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
48
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ( 23955123 )
2013
49
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. ( 23788720 )
2013
50
Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan. ( 24184691 )
2013
Sources

Variations for Myoclonus Epilepsy

About this section

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
Sources

Expression for Myoclonus Epilepsy

About this section
Search GEO for disease gene expression data for Myoclonus Epilepsy.
Sources

Pathways for Myoclonus Epilepsy

About this section
Sources

GO Terms for Myoclonus Epilepsy

About this section

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

Sources for Myoclonus Epilepsy

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....