MCID: MYC026
MIFTS: 35

Myoclonus Epilepsy

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonus Epilepsy

MalaCards integrated aliases for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy 52
Epilepsies, Myoclonic 71

Classifications:



External Ids:

UMLS 71 C0014550

Summaries for Myoclonus Epilepsy

MalaCards based summary : Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to progressive myoclonus epilepsy, lafora type and progressive myoclonus epilepsy 6, 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 Stiripentol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin, and related phenotypes are behavior/neurological and muscle

Related Diseases for Myoclonus Epilepsy

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy 4 Progressive Myoclonus Epilepsy 10
Progressive Myoclonus Epilepsy 3 Progressive Myoclonus Epilepsy 7
Progressive Myoclonus Epilepsy 1b Progressive Myoclonus Epilepsy 6
Progressive Myoclonus Epilepsy 9 Progressive Myoclonus Epilepsy 8
Progressive Myoclonus Epilepsy 1a Progressive Myoclonus Epilepsy

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

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 34.0 NHLRC1 EPM2A
2 progressive myoclonus epilepsy 6 33.6 EPM2A CSTB
3 progressive myoclonus epilepsy 4 33.2 PRICKLE1 EPM2A CSTB
4 progressive myoclonus epilepsy 1a 33.0 EPM2A CSTB
5 progressive myoclonus epilepsy 10 32.8 NHLRC1 EPM2A CSTB
6 myoclonic epilepsy of unverricht and lundborg 32.5 EPM2A CSTB
7 unverricht-lundborg syndrome 32.2 PRICKLE1 NHLRC1 EPM2A CSTB
8 myoclonic epilepsy of lafora 31.9 NHLRC1 EPM2AIP1 EPM2A CSTB
9 epilepsy, myoclonic juvenile 31.3 NHLRC1 EPM2A CSTB
10 progressive myoclonus epilepsy 30.5 TRAPPC10 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
11 early myoclonic encephalopathy 29.9 NHLRC1 EPM2A CSTB
12 glycoproteinosis 29.7 NHLRC1 CSTB
13 glycogen storage disease iv 29.3 NHLRC1 EPM2A
14 myoclonus 29.0 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A CSTB
15 dementia 28.7 NHLRC1 EPM2A CSTB
16 epilepsy 28.0 TRAPPC10 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
17 prickle1-related progressive myoclonus epilepsy with ataxia 12.8
18 progressive myoclonus epilepsy 7 12.7
19 progressive myoclonus epilepsy 3 12.7
20 progressive myoclonus epilepsy 9 12.6
21 progressive myoclonus epilepsy 8 12.6
22 progressive myoclonus epilepsy 1b 12.3
23 myoclonus epilepsy partial seizure 12.3
24 myoclonic epilepsy associated with ragged-red fibers 11.8
25 epilepsy, progressive myoclonic, 4, with or without renal failure 11.8
26 epilepsy, progressive myoclonic 7 11.7
27 familial adult myoclonic epilepsy 11.7
28 epilepsy, progressive myoclonic, 6 11.7
29 epilepsy, progressive myoclonic, 1b 11.6
30 epilepsy, progressive myoclonic, 8 11.6
31 epileptic encephalopathy, early infantile, 6 11.6
32 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.6
33 epilepsy, progressive myoclonic, 9 11.6
34 myoclonic epilepsy of infancy 11.6
35 dentatorubral-pallidoluysian atrophy 11.5
36 encephalopathy, familial, with neuroserpin inclusion bodies 11.5
37 epilepsy, progressive myoclonic, 10 11.5
38 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
39 myoclonic epilepsy, familial infantile 11.3
40 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.3
41 epileptic encephalopathy, early infantile, 16 11.3
42 myoclonic epilepsy in non-progressive encephalopathies 11.3
43 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.2
44 ceroid lipofuscinosis, neuronal, 1 11.2
45 ramsay hunt syndrome i 11.2
46 ataxia and polyneuropathy, adult-onset 10.8
47 autosomal recessive disease 10.5
48 tremor 10.4
49 myopathy 10.4
50 neuronal ceroid lipofuscinosis 10.4

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CERS1 CSTB EPM2A EPM2AIP1 NHLRC1 PRICKLE1
2 muscle MP:0005369 9.35 CSTB EPM2A EPM2AIP1 NHLRC1 PRICKLE1
3 nervous system MP:0003631 9.1 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 TRAPPC10

Drugs & Therapeutics for Myoclonus Epilepsy

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Stiripentol Approved Phase 3 49763-96-4
2 Strawberry Approved Phase 3
3
Ethanol Approved Phase 3 64-17-5 702
4
tannic acid Approved Phase 3 1401-55-4
5
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
6
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
7 Antibodies Phase 3
8 Rho(D) Immune Globulin Phase 3
9 Immunoglobulins, Intravenous Phase 3
10 Immunologic Factors Phase 3
11 gamma-Globulins Phase 3
12 Immunoglobulins Phase 3
13 Serotonin Uptake Inhibitors Phase 3
14 Hormones Phase 3
15 Calcium, Dietary Phase 3
16 calcium channel blockers Phase 3
17
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
18
Calcium Nutraceutical Phase 3 7440-70-2 271
19
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
20
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 497540 5095
21
Verapamil Approved Phase 2 52-53-9 2520
22 Dopamine Agents Phase 2
23 Dopamine agonists Phase 2
24 Antiparkinson Agents Phase 2
25 Anti-Arrhythmia Agents Phase 2
26 Vasodilator Agents Phase 2
27
Levetiracetam Approved 102767-28-2 441341
28 Insulin, Globin Zinc
29 insulin

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Unknown status NCT03351569 Phase 3 Intravenous immunoglobulin
2 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome. Completed NCT02224703 Phase 3 GWP42003-P;Placebo Control
3 A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children and Young Adults With Dravet Syndrome Completed NCT02926898 Phase 3 ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
4 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
5 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
6 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution 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
7 An Open Label Extension Study to Investigate the Safety of Cannabidiol (GWP42003-P; CBD) in Children and Young Adults With Inadequately Controlled Dravet or Lennox-Gastaut Syndromes. Active, not recruiting NCT02224573 Phase 3 GWP42003-P
8 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Active, not recruiting NCT02682927 Phase 3 ZX008 (Fenfluramine Hydrochloride);Matching Placebo
9 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome Enrolling by invitation NCT02823145 Phase 3 ZX008 (Fenfluramine Hydrochloride)
10 An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome Enrolling by invitation NCT03936777 Phase 3 ZX008 (Fenfluramine Hydrochloride)
11 An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial Enrolling by invitation NCT03299842 Phase 3 ZX008 (Fenfluramine Hydrochloride)
12 Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Terminated NCT02187809 Phase 3 Clobazam
13 A Double-blind, Randomised, Placebo-controlled, Multi-centre Study to Assess the Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
14 Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
15 A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome Withdrawn NCT02318563 Phase 3 Cannabidiol Oral Solution;Placebo Solution
16 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
17 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial Unknown status NCT01450423 Phase 2
18 Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome Completed NCT01607073 Phase 2 Verapamil
19 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
20 An Open-Label Study to Investigate the Safety and Pharmacokinetics of Single Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents With Dravet Syndrome Recruiting NCT04442295 Phase 1, Phase 2 STK-001
21 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935
22 An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome Active, not recruiting NCT03467113 Phase 1, Phase 2 ZX008 0.2 and 0.8 mg/kg/day
23 A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or Dravet Syndrome Active, not recruiting NCT02758626 Phase 2 ataluren;Placebo
24 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Active, not recruiting NCT03650452 Phase 2 TAK-935;Placebo
25 The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children Terminated NCT02815540 Phase 1, Phase 2 Cannabidiol
26 A Phase I, Placebo-Controlled, Double-Blind, 2-Period Study to Assess Safety and Pharmacokinetics of Escalating Single and Multiple Oral Doses of EPX-100 in Fasting Healthy Subjects and Following a High-Fat Meal Completed NCT04069689 Phase 1 EPX-100 (Clemizole Hydrochloride);Placebos
27 Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome Approved for marketing NCT01983722 Stiripentol
28 Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population Completed NCT02229032
29 Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study Completed NCT02415686
30 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
31 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
32 Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome Recruiting NCT02896608
33 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285
34 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
35 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Active, not recruiting NCT03876522
36 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Active, not recruiting NCT01331642
37 Treatment of Gait Disorders in Children With Dravet Syndrome Active, not recruiting NCT03857451
38 Treatment of Dravet Syndrome With Fenfluramine (Expanded Access Protocol) Available NCT04437004 Fenfluramine
39 ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan Available NCT03780127 Fenfluramine Hydrochloride
40 The Becoming of Children With Doose Syndrome Not yet recruiting NCT04048213
41 Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome No longer available NCT01533506 stiripentol
42 Compassionate Use of Stiripentol in Dravet Syndrome No longer available NCT01835314 Stiripentol
43 Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations No longer available NCT02239276 Stiripentol
44 Turmeric as Treatment in Epilepsy Withdrawn NCT03254680
45 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 71 / NDF-RT 50 :


Clonazepam

Genetic Tests for Myoclonus Epilepsy

Anatomical Context for Myoclonus Epilepsy

MalaCards organs/tissues related to Myoclonus Epilepsy:

40
Brain, Cortex, Skin, Liver, Eye, Skeletal Muscle, Pituitary

Publications for Myoclonus Epilepsy

Articles related to Myoclonus Epilepsy:

(show top 50) (show all 921)
# Title Authors PMID Year
1
FDG-PET assessment and metabolic patterns in Lafora disease. 61
31858178 2020
2
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy. 61
32378798 2020
3
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. 61
32453490 2020
4
A high prevalence of arterial hypertension in patients with mitochondrial diseases. 61
31762033 2020
5
Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene 61
32364361 2020
6
Perampanel for nonepileptic myoclonus in Angelman syndrome. 61
32164978 2020
7
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. 61
31957011 2020
8
A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease. 61
32342326 2020
9
Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. 61
31808062 2020
10
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. 61
32105965 2020
11
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. 61
31758957 2020
12
High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. 61
31561936 2020
13
Lafora Disease: Report of a Rare Entity. 61
32140352 2020
14
PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists. 61
31760202 2020
15
Automatic assessment of the myoclonus severity from videos recorded according to standardized Unified Myoclonus Rating Scale protocol and using human pose and body movement analysis. 61
32035366 2020
16
Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy. 61
31799456 2019
17
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019
18
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia. 61
31682953 2019
19
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. 61
30954670 2019
20
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
21
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. 61
31476531 2019
22
An Italian multicentre study of perampanel in progressive myoclonus epilepsies. 61
31446282 2019
23
Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy. 61
31195184 2019
24
Phenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation. 61
31178486 2019
25
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 61
31368437 2019
26
Pharmacotherapeutic management of epilepsy in MERRF syndrome. 61
31063406 2019
27
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. 61
31353862 2019
28
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. 61
31035234 2019
29
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. 61
31353855 2019
30
Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. 61
30972844 2019
31
Treatment with metformin in twelve patients with Lafora disease. 61
31227012 2019
32
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1. 61
30564977 2019
33
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases. 61
30559482 2019
34
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation. 61
30660924 2019
35
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
36
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. 61
30561534 2019
37
Autistic features in Unverricht-Lundborg disease. 61
31463470 2019
38
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. 61
30598679 2019
39
[Lafora disease: a review of the literature]. 61
30638256 2019
40
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. 61
31551911 2019
41
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 61
30382391 2019
42
Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress. 61
30669344 2019
43
Sleep is associated with reduction of epileptiform discharges in benign adult familial myoclonus epilepsy. 61
30591883 2019
44
Lafora Disease: A Review of Molecular Mechanisms and Pathology. 61
30336494 2018
45
Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation. 61
29984755 2018
46
PRICKLE1-related early onset epileptic encephalopathy. 61
30345727 2018
47
Lafora disease - from pathogenesis to treatment strategies. 61
30143794 2018
48
Nationwide survey in Japan endorsed diagnostic criteria of benign adult familial myoclonus epilepsy. 61
30053653 2018
49
RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis. 61
30262910 2018
50
Biochemical and clinical aspects of glycogen storage diseases. 61
29875163 2018

Variations for Myoclonus Epilepsy

Copy number variations for Myoclonus Epilepsy from CNVD:

7
# CNVD ID Chromosome 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

Cellular components related to Myoclonus Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of endoplasmic reticulum membrane GO:0098554 8.62 EPM2AIP1 EPM2A

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 9.43 PRICKLE1 NHLRC1
2 regulation of protein phosphorylation GO:0001932 9.4 NHLRC1 EPM2A
3 glycogen metabolic process GO:0005977 9.37 NHLRC1 EPM2A
4 regulation of protein kinase activity GO:0045859 9.32 NHLRC1 EPM2A
5 regulation of protein localization to plasma membrane GO:1903076 9.26 NHLRC1 EPM2A
6 glycogen biosynthetic process GO:0005978 9.16 NHLRC1 EPM2A
7 regulation of protein ubiquitination GO:0031396 8.96 NHLRC1 EPM2A
8 cellular macromolecule metabolic process GO:0044260 8.62 NHLRC1 EPM2A

Sources for Myoclonus Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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