MCID: MYC033
MIFTS: 47

Myoclonus

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonus

MalaCards integrated aliases for Myoclonus:

Name: Myoclonus 54 29 6 33

Classifications:



External Ids:

ICD10 33 G25.3

Summaries for Myoclonus

NINDS : 54 Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while drifting off to sleep.  These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles.  Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures.  Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders.  It can occur by itself, but most often it is one of several symptoms  associated with a wide variety of nervous system disorders.

MalaCards based summary : Myoclonus is related to myoclonic epilepsy of lafora and dystonia 11, myoclonic. An important gene associated with Myoclonus is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Dexmedetomidine and Cisatracurium have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are behavior/neurological and cellular

Wikipedia : 75 Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching (different from clonus, which is... more...

Related Diseases for Myoclonus

Diseases in the Myoclonus family:

Myoclonus, Familial, 1 Myoclonus, Familial, 2
Primary Myoclonus Rare Myoclonus

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

(show top 50) (show all 851)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 33.2 NHLRC1 EPM2A CSTB
2 dystonia 11, myoclonic 33.1 SLC2A1 SGCE
3 myoclonic epilepsy of unverricht and lundborg 32.9 SCARB2 GOSR2 EPM2A CSTB
4 myoclonus epilepsy 32.6 SCARB2 PRICKLE1 NHLRC1 EPM2A CSTB CERS1
5 unverricht-lundborg syndrome 32.2 SCARB2 PRICKLE1 NHLRC1 KCNC1 EPM2A CSTB
6 progressive myoclonus epilepsy 31.6 SCARB2 PRICKLE1 NHLRC1 KCTD7 KCNC1 GOSR2
7 movement disease 30.3 SLC2A1 SGCE DRD2
8 dystonia 30.1 SLC2A1 SGCE DRD2 CSTB
9 neuroleptic malignant syndrome 29.9 NHLRC1 DRD2
10 benign epilepsy with centrotemporal spikes 29.1 SLC2A1 EPM2A CSTB
11 dystonia, dopa-responsive 28.7 SLC2A1 SGCE
12 epilepsy 27.5 SLC2A1 SCARB2 PRICKLE1 NHLRC1 KCTD7 KCNC1
13 opsoclonus-myoclonus syndrome 12.8
14 myoclonus, familial, 1 12.7
15 prickle1-related progressive myoclonus epilepsy with ataxia 12.6
16 progressive myoclonus epilepsy, lafora type 12.6
17 myoclonus, intractable, neonatal 12.5
18 myoclonus, familial, 2 12.5
19 myoclonus, cerebellar ataxia, and deafness 12.5
20 propriospinal myoclonus 12.4
21 epilepsy, progressive myoclonic, 4, with or without renal failure 12.3
22 gosr2-related progressive myoclonus ataxia 12.3
23 myoclonus and ataxia 12.3
24 sgce myoclonus-dystonia 12.2
25 progressive encephalomyelitis with rigidity and myoclonus 12.2
26 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.2
27 primary myoclonus 12.2
28 early-onset progressive encephalopathy with migrant continuous myoclonus 12.2
29 spinal muscular atrophy with progressive myoclonic epilepsy 12.2
30 myoclonic epilepsy associated with ragged-red fibers 12.1
31 neuraminidase deficiency 12.1
32 glycoproteinosis 12.1
33 myoclonus epilepsy partial seizure 12.1
34 epilepsy and/or ataxia with myoclonus as major feature 12.1
35 non progressive epilepsy and/or ataxia with myoclonus as a major feature 12.1
36 rare disease with myoclonus as a major feature 12.1
37 obsolete: progressive epilepsy and/or ataxia with myoclonus as a major feature 12.1
38 rare genetic disease with myoclonus as a major feature 12.1
39 rare genetic myoclonus 12.1
40 rare myoclonus 12.1
41 epilepsy, progressive myoclonic, 6 12.0
42 epilepsy, progressive myoclonic 7 12.0
43 myoclonic cerebellar dyssynergia 11.9
44 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.9
45 epilepsy, myoclonic juvenile 11.8
46 epileptic encephalopathy, early infantile, 6 11.8
47 epilepsy, progressive myoclonic, 1b 11.8
48 epilepsy, progressive myoclonic, 8 11.8
49 epilepsy, progressive myoclonic, 9 11.8
50 parasomnia, sleep bruxism type 11.7

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to Myoclonus

Symptoms & Phenotypes for Myoclonus

MGI Mouse Phenotypes related to Myoclonus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 CERS1 CSTB DRD2 EPM2A GOSR2 KCNC1
2 cellular MP:0005384 10.11 CERS1 CSTB DRD2 EPM2A KIF5A NEU1
3 growth/size/body region MP:0005378 10.02 CERS1 CSTB DRD2 EPM2A KCNC1 KIF5A
4 homeostasis/metabolism MP:0005376 9.96 CERS1 DRD2 EPM2A KCNC1 KIF5A NEU1
5 muscle MP:0005369 9.81 CSTB DRD2 EPM2A KCNC1 NEU1 NHLRC1
6 nervous system MP:0003631 9.73 CERS1 CSTB DRD2 EPM2A KCNC1 KIF5A
7 no phenotypic analysis MP:0003012 9.1 CSTB DRD2 NEU1 NHLRC1 PRICKLE1 SLC2A1

Drugs & Therapeutics for Myoclonus

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

(show top 50) (show all 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2
Cisatracurium Approved Phase 4 96946-41-7
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
9
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Etomidate Approved Phase 4 33125-97-2 36339 667484
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15 Adrenergic alpha-2 Receptor Agonists Phase 4
16 Analgesics, Non-Narcotic Phase 4
17 Pharmaceutical Solutions Phase 4
18 Adrenergic Agonists Phase 4
19 Citrate Phase 4
20 Neuromuscular Nondepolarizing Agents Phase 4
21 Neuromuscular Agents Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Neuromuscular Blocking Agents Phase 4
24 Adrenergic Agents Phase 4
25 Cholinergic Antagonists Phase 4
26 Anesthetics, Local Phase 4
27 Sodium Channel Blockers Phase 4
28 Diuretics, Potassium Sparing Phase 4
29 Anti-Arrhythmia Agents Phase 4
30 Antimanic Agents Phase 4
31 Tranquilizing Agents Phase 4
32 Anti-Anxiety Agents Phase 4
33 Adjuvants, Anesthesia Phase 4
34 GABA Agents Phase 4
35 Hypnotics and Sedatives Phase 4
36 GABA Modulators Phase 4
37 Anesthetics, General Phase 4
38 Psychotropic Drugs Phase 4
39 Anesthetics, Intravenous Phase 4
40
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
41
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
42
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
45
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
46 calcium channel blockers Phase 3
47 Calcium, Dietary Phase 3
48 Corticotropin-Releasing Hormone Phase 3
49 Immunoglobulin G Phase 3
50 HIV Protease Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus During General Anesthesia Induction Period Unknown status NCT02518789 Phase 4 Low-dose Dexmedetomidine;High-dose dexmedetomidine;normal saline;Etomidate;midazolam,fentanyl,rocuronium;propofol,remifentanil,cis atracurium
2 Effect of Pre-injection of Lidocaine on Myoclonus Induced by Induction With Etomidate in Elderly Patients During General Anesthesia Unknown status NCT02141737 Phase 4 Lidocaine Hydrochloride Injection;Etomidate Fat Emulsion Injection;normal saline;Midazolam Injection;Fentanyl Citrate Injection;Rocuronium Injection
3 The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild Hypothermia Unknown status NCT01083784 Phase 4 Use of prophylactic anticonvulsants (valproate, clonazepam);Control group
4 Comparison of Induction Characteristics of Two Anaesthetic Agents-Etomidate Lipuro and Propofol Completed NCT02807610 Phase 4 Inj Etomidate;Injection Propofol;Placebo for Propofol
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, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥ 16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
7 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
8 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
9 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
10 Multinational European Trial for Children With the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
11 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
12 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
13 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
14 A Phase I Clinical Trial of Rituximab for Pediatric Opsoclonus-Myoclonus Syndrome Completed NCT00244361 Phase 1, Phase 2 rituximab
15 Efficacy of Levetiracetam in Patients With Essential Tremor Completed NCT00620165 Phase 1, Phase 2 levetiracetam;placebo
16 A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
17 An Open Label, Multi-centered, Randomized Phase 2 Study to Evaluate the Safety, Tolerability and Bioactivity of Subcutaneous ACTH GeL in PAtients With Scleritis: The ATLAS Study Recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
18 Non-myeloablative Hematopoietic Stem Cell Transplantation for Stiff Person Syndrome (SPS) and Anti-GAD Antibody Variants: Progressive Encephalomyelitis With Rigidity and Myoclonus (PERM), and Adult Onset Autoimmune Anti-GAD Positive Cerebellar Ataxia Active, not recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
19 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-Dimethoxymethyl-5,5-Diphenyl-Barbituric Acid) In Patients With Myoclonus Dystonia: An Open Label Sequential Dose Escalation Study Terminated NCT00506012 Phase 2 T2000
20 Role of Methadone As Co-Opioid Analgesic in Cancer Patients Terminated NCT00558870 Phase 2 Morphine;Methadone
21 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
22 Open Label Study of Safety and Tolerability of Rituximab in Neuromyelitis Optica, Recurrent Transverse Myelitis and Recurrent Bilateral Simultaneous Optic Neuritis Completed NCT00501748 Phase 1 Rituximab
23 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
24 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
25 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
26 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
27 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
28 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
29 A Prospective Cohort Study Evaluating Prognostic Indicators and Sequelae Following Severe Hand Foot and Mouth Disease Completed NCT02066714
30 Continuous Monitoring of Patients Treated With Opioids for Chronic Pain and Its Impact on Patient Safety. A Feasibility Trial. Completed NCT02068274
31 Parenteral Hydration in Advanced Cancer Patients - A Randomized Controlled Trial Completed NCT00423722 Saline;Saline
32 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Recruiting NCT03876522
33 Versailles Hospital Cardiac Arrest Registry Recruiting NCT03594318
34 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Recruiting NCT01373424
35 Neuronal Correlates of Agency in Dystonia Recruiting NCT03351218
36 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Recruiting NCT02886039
37 A Training Protocol for the Use of Botulinum Toxin in the Treatment of Neurological Disorders Recruiting NCT00001208
38 Epidemiology and Pathophysiology of Parkinsonism in the Caribbeans Recruiting NCT03368300
39 Noncontact Vital Sign Monitoring Using Impulse Radio Ultra-wideband (IR-UWB) Radar in Neonates and Children Recruiting NCT03622996
40 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
41 Neuroblastoma Biology Studies Recruiting NCT00904241
42 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Recruiting NCT01331642
43 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009
44 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
45 Biochemical Makers for Outcome Prognostication After Pediatric out-of Hospital Cardiac Arrest: Observational Cohort Trial Recruiting NCT03873662
46 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
47 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298634
48 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
49 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673
50 Examining the Link Between Clinical and Physiological Sleep Data and Health-related Outcomes Active, not recruiting NCT03383354

Search NIH Clinical Center for Myoclonus

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Fluoxetine

Genetic Tests for Myoclonus

Genetic tests related to Myoclonus:

# Genetic test Affiliating Genes
1 Myoclonus 29

Anatomical Context for Myoclonus

MalaCards organs/tissues related to Myoclonus:

41
Brain, Spinal Cord, Cortex, Eye, Kidney, Liver, Lung

Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 7325)
# Title Authors PMID Year
1
Anti-Ri-associated paraneoplastic neurological syndrome: Initial symptom of breast cancer with HER2 overexpression and treatment by dual HER2 blockade. 38
30124121 2019
2
Cephalosporin-related neurotoxicity: Metabolic encephalopathy or non-convulsive status epilepticus? 38
31201049 2019
3
Hypertrophic olivary degeneration: A comprehensive review focusing on etiology. 38
31026459 2019
4
SPS: Understanding the complexity. 38
31377632 2019
5
Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy. 38
31195184 2019
6
Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene. 38
30996196 2019
7
Cerebellar Syndrome Associated with Thyroid Disorders. 38
31388971 2019
8
Status epilepticus in Hashimoto's encephalopathy. 38
31228700 2019
9
Corticobasal degeneration: advances in clinicopathology and biomarkers. 38
31145128 2019
10
An upfront immunomodulatory therapy protocol for pediatric opsoclonus-myoclonus syndrome. 38
31033188 2019
11
Myoclonus. 38
31356293 2019
12
Diagnostic value of whole-body MRI in Opsoclonus-myoclonus syndrome: a clinical case series (3 case reports). 38
31429709 2019
13
Psychogenic (Functional) Movement Disorders. 38
31356296 2019
14
It twitches without kicking - An association between fragmentary myoclonus and arousal? 38
31212201 2019
15
[Zonisamide treatment in myoclonus-dystonia]. 38
31423828 2019
16
Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome. 38
31399334 2019
17
Pembrolizumab for Patients With Refractory or Relapsed Thymic Epithelial Tumor: An Open-Label Phase II Trial. 38
29906252 2019
18
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 38
31368437 2019
19
Multiple system atrophy and myoclonus: A morphologic marker in the spinal cord? 38
31405931 2019
20
Spinal cord α-synuclein deposition associated with myoclonus in patients with MSA-C. 38
31405935 2019
21
[Neurological complications associated with dengue virus infection]. 38
31310001 2019
22
Fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder. 38
30676675 2019
23
Clinical Profile, Prognostic Indicators, and Therapeutic Outcomes of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: A Single-Center Experience from South India. 38
31359941 2019
24
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. 38
31353862 2019
25
Risk assessment and prediction of TD incidence in psychiatric patients taking concomitant antipsychotics: a retrospective data analysis. 38
31325958 2019
26
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene. 38
31319423 2019
27
Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene. 38
31158466 2019
28
Case Report: Subacute Sclerosing Panencephalitis Presenting as Acute Encephalitis. 38
31134883 2019
29
Reprint of "EEG: Characteristics of drug-induced seizures in rats, dogs and non-human primates". 38
31351950 2019
30
Spectrum of Movement Disorders in Patients With Neuroinvasive West Nile Virus Infection. 38
31392241 2019
31
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. 38
31035234 2019
32
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations. 38
31112829 2019
33
Opioid Analgesics Adverse Effects:The Other Side Of The Coin. 38
31333113 2019
34
Myoclonus, Hydrocephalus in Mitochondrial Protein Associated Neurodegeneration. 38
31327327 2019
35
Clinical phenotypes associated with outcomes following deep brain stimulation for childhood dystonia. 38
31299640 2019
36
Persistence of limb dystonia and myoclonus during sleep in corticobasal syndrome: a case series. 38
30853191 2019
37
Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers. 38
30999254 2019
38
A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia. 38
31392249 2019
39
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. 38
31353855 2019
40
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. 38
31034681 2019
41
Pharmacotherapeutic management of epilepsy in MERRF syndrome. 38
31063406 2019
42
A comparative study of two infusion doses of etomidate for induction vs standard induction dose of etomidate. 38
31037454 2019
43
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. 38
31368241 2019
44
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. 38
31371146 2019
45
Clinical characteristics of autoimmune GFAP astrocytopathy. 38
30991306 2019
46
The neurological syndromes associated with glutamic acid decarboxylase antibodies. 38
31000408 2019
47
Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature. 38
31015081 2019
48
Total Corpus Callosotomy for Medically Refractory Status Epilepticus Due to Progressive Myoclonic Epilepsy: A Clinically Challenging Case. 38
31042603 2019
49
Painful Myoclonus Triggered By Lateral Antebrachial Cutaneous Nerve Entrapment at Brachioradialis Muscle: A Case Report. 38
31361616 2019
50
Ondansetron-Induced Myoclonus With Escitalopram and HAART: Role of Drug Interactions. 38
31364825 2019

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20): c.2594C> G (p.Ser865Ter) single nucleotide variant Pathogenic 22:42608718-42608718 22:42212712-42212712
2 SLC2A1 NM_006516.3(SLC2A1): c.470dup (p.Thr158fs) duplication Pathogenic rs1057518821 1:43396343-43396343 1:42930672-42930672
3 46;XX;t(1;5)(p31;q33)dn Translocation Likely pathogenic
4 FUS NM_004960.3(FUS): c.13+10_13+12delGGC deletion Uncertain significance rs1057518893 16:31191558-31191560 16:31180237-31180239
5 TNXB NM_019105.8(TNXB): c.6349_6352del (p.Val2117fs) deletion Uncertain significance rs754439905 6:32035630-32035633 6:32067853-32067856
6 TNXB NM_019105.8(TNXB): c.5052C> A (p.Asp1684Glu) single nucleotide variant Uncertain significance rs776883744 6:32038130-32038130 6:32070353-32070353

Expression for Myoclonus

Search GEO for disease gene expression data for Myoclonus.

Pathways for Myoclonus

GO Terms for Myoclonus

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.47 SLC2A1 SGCE SCARB2 PRICKLE1 NOL3 NEU1
2 dendrite membrane GO:0032590 8.96 SGCE KCNC1

Biological processes related to Myoclonus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.33 SLC2A1 NOL3 DRD2
2 autophagy GO:0006914 9.13 NHLRC1 EPM2A DRD2
3 glycogen biosynthetic process GO:0005978 8.62 NHLRC1 EPM2A

Molecular functions related to Myoclonus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 TCF20 SLC2A1 SCARB2 PRICKLE1 NOL3 NHLRC1

Sources for Myoclonus

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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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