MCID: MYC033
MIFTS: 46

Myoclonus

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonus

MalaCards integrated aliases for Myoclonus:

Name: Myoclonus 53 29 6 32

Classifications:



External Ids:

ICD10 32 G25.3

Summaries for Myoclonus

NINDS : 53 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 progressive myoclonus epilepsy, lafora type and progressive myoclonus epilepsy 6. An important gene associated with Myoclonus is KMT2B (Lysine Methyltransferase 2B). The drugs Remifentanil 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 : 74 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 867)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 34.3 NHLRC1 EPM2A
2 progressive myoclonus epilepsy 6 33.9 GOSR2 EPM2A CSTB
3 progressive myoclonus epilepsy 7 33.9 KCNC1 CSTB
4 progressive myoclonus epilepsy 10 33.8 NHLRC1 EPM2A CSTB
5 sgce myoclonus-dystonia 33.8 SGCE DRD2
6 progressive myoclonus epilepsy 1b 33.6 PRICKLE1 KCTD7
7 progressive myoclonus epilepsy 4 33.6 SCARB2 PRICKLE1 KCTD7 EPM2A CSTB
8 progressive myoclonus epilepsy 1a 33.5 KCTD7 EPM2A CSTB
9 glycoproteinosis 33.3 NHLRC1 NEU1 CSTB
10 spinal muscular atrophy with progressive myoclonic epilepsy 33.3 KCTD7 GOSR2 CERS1
11 myoclonic epilepsy of unverricht and lundborg 33.1 SCARB2 GOSR2 EPM2A CSTB
12 myoclonic epilepsy of lafora 33.0 NHLRC1 EPM2AIP1 EPM2A CSTB
13 myoclonus epilepsy 32.4 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A CSTB
14 epilepsy, myoclonic juvenile 32.0 SLC2A1 NHLRC1 EPM2A CSTB
15 early myoclonic encephalopathy 32.0 SCN8A NHLRC1 KCTD7 EPM2A CSTB
16 unverricht-lundborg syndrome 31.9 SCARB2 PRICKLE1 NHLRC1 KCTD7 KCNC1 GOSR2
17 progressive myoclonus epilepsy 31.1 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7 KCNC1
18 movement disease 30.4 SLC2A1 SGCE DRD2
19 focal hand dystonia 29.7 SGCE DRD2
20 dementia 29.6 NHLRC1 EPM2A DRD2 CSTB
21 dystonia 29.5 SLC2A1 SGCE KMT2B KCTD7 DRD2 CSTB
22 visual epilepsy 29.3 SLC2A1 SCN8A NHLRC1 KCTD7 GOSR2 EPM2A
23 benign epilepsy with centrotemporal spikes 29.2 SLC2A1 EPM2A CSTB
24 dystonia, dopa-responsive 29.0 SLC2A1 SGCE
25 epilepsy, idiopathic generalized 29.0 SLC2A1 SCN8A EPM2AIP1
26 early infantile epileptic encephalopathy 28.9 SLC2A1 SCN8A KCTD7 KCNC1
27 epilepsy 27.4 SLC2A1 SCN8A SCARB2 PRICKLE1 NHLRC1 LOC109029533
28 opsoclonus-myoclonus syndrome 12.8
29 myoclonus, familial, 1 12.7
30 prickle1-related progressive myoclonus epilepsy with ataxia 12.6
31 myoclonus, familial, 2 12.5
32 myoclonus, intractable, neonatal 12.5
33 myoclonus, cerebellar ataxia, and deafness 12.5
34 progressive myoclonus epilepsy 3 12.4
35 propriospinal myoclonus 12.4
36 dystonia 11, myoclonic 12.4
37 progressive myoclonus epilepsy 8 12.4
38 progressive myoclonus epilepsy 9 12.3
39 epilepsy, progressive myoclonic, 4, with or without renal failure 12.3
40 myoclonus and ataxia 12.3
41 progressive encephalomyelitis with rigidity and myoclonus 12.2
42 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.2
43 primary myoclonus 12.2
44 early-onset progressive encephalopathy with migrant continuous myoclonus 12.2
45 neuraminidase deficiency 12.1
46 myoclonic epilepsy associated with ragged-red fibers 12.1
47 myoclonus epilepsy partial seizure 12.0
48 epilepsy and/or ataxia with myoclonus as a major feature 12.0
49 non progressive epilepsy and/or ataxia with myoclonus as a major feature 12.0
50 rare disease with myoclonus as a major feature 12.0

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to Myoclonus

Symptoms & Phenotypes for Myoclonus

MGI Mouse Phenotypes related to Myoclonus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 CERS1 CSTB DRD2 EPM2A EPM2AIP1 GOSR2
2 cellular MP:0005384 10.13 CERS1 CSTB DRD2 EPM2A KIF5A KMT2B
3 growth/size/body region MP:0005378 10.13 CERS1 CSTB DRD2 EPM2A EPM2AIP1 KCNC1
4 homeostasis/metabolism MP:0005376 10 CERS1 DRD2 EPM2A EPM2AIP1 KCNC1 KIF5A
5 muscle MP:0005369 9.7 CSTB DRD2 EPM2A EPM2AIP1 KCNC1 NEU1
6 nervous system MP:0003631 9.47 CERS1 CSTB DRD2 EPM2A KCNC1 KIF5A

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
Remifentanil Approved Phase 4 132875-61-7 60815
2
Cisatracurium Approved Phase 4 96946-41-7
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
6
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
9
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
11
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
12
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
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-Agonists Phase 4
16 Pharmaceutical Solutions Phase 4
17 Cholinergic Agents Phase 4
18 Adrenergic Agents Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Anti-Anxiety Agents Phase 4
21 Neuromuscular Blocking Agents Phase 4
22 Citrate Phase 4
23 Psychotropic Drugs Phase 4
24 GABA Modulators Phase 4
25 Adrenergic Agonists Phase 4
26 Cholinergic Antagonists Phase 4
27 Sodium Channel Blockers Phase 4
28 Anti-Arrhythmia Agents Phase 4
29 Diuretics, Potassium Sparing Phase 4
30 Anesthetics, Local Phase 4
31 Anesthetics, General Phase 4
32 Hypnotics and Sedatives Phase 4
33 Anesthetics, Intravenous Phase 4
34
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
35
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
36
Piracetam Approved, Investigational Phase 3 7491-74-9
37
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
38
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
39 Rho(D) Immune Globulin Phase 3
40 Immunoglobulins, Intravenous Phase 3
41 gamma-Globulins Phase 3
42 Corticotropin-Releasing Hormone Phase 3
43 Calcium, Dietary Phase 3
44 calcium channel blockers Phase 3
45 Neuroprotective Agents Phase 3
46 Protective Agents Phase 3
47
protease inhibitors Phase 3
48 HIV Protease Inhibitors Phase 3
49 BB 1101 Phase 3
50
Calcium Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 57)
# 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 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Unknown status NCT03351569 Phase 3 Intravenous immunoglobulin
6 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Unknown status NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
7 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
8 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
9 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
10 Therapeutic Use of Piracetam for Treatment of Patients Suffering From Tardive Dyskinesia: a Double Blind, Placebo-Controlled Crossover Study Completed NCT00190008 Phase 3 piracetam
11 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
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 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
18 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
19 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
20 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
21 Role of Methadone As Co-Opioid Analgesic in Cancer Patients Terminated NCT00558870 Phase 2 Morphine;Methadone
22 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
23 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
24 Neuronal Correlates of Agency in Dystonia Unknown status NCT03351218
25 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Unknown status NCT02886039
26 Electrophysiological Characteristics and Anatomical Differentiation of Epileptic and Non-epileptic Myoclonus. Completed NCT04235452
27 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
28 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
29 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
30 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
31 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
32 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
33 A Prospective Cohort Study Evaluating Prognostic Indicators and Sequelae Following Severe Hand Foot and Mouth Disease Completed NCT02066714
34 Continuous Monitoring of Patients Treated With Opioids for Chronic Pain and Its Impact on Patient Safety. A Feasibility Trial. Completed NCT02068274
35 Parenteral Hydration in Advanced Cancer Patients - A Randomized Controlled Trial Completed NCT00423722 Saline;Saline
36 Versailles Hospital Cardiac Arrest Registry Recruiting NCT03594318
37 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Recruiting NCT01373424
38 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
39 Neuroblastoma Biology Studies Recruiting NCT00904241
40 Noncontact Vital Sign Monitoring Using Impulse Radio Ultra-wideband (IR-UWB) Radar in Neonates and Children Recruiting NCT03622996
41 Epidemiology and Pathophysiology of Parkinsonism in the Caribbeans Recruiting NCT03368300
42 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009
43 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
44 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
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 Validation of the FOUR Coma Scale in Russia. - a Prospective Observational Multi-center Cohort Study Recruiting NCT04018989
48 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Active, not recruiting NCT03876522
49 Examining the Link Between Clinical and Physiological Sleep Data and Health-related Outcomes Active, not recruiting NCT03383354
50 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Active, not recruiting NCT01331642

Search NIH Clinical Center for Myoclonus

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:

40
Brain, Spinal Cord, Cortex, Eye, Kidney, Liver, Lung

Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 7542)
# Title Authors PMID Year
1
Analysis of Chinese patients with sporadic Creutzfeldt-Jakob disease. 61
32378453 2020
2
Treatment and revaccination of children with paraneoplastic opsoclonus-myoclonus-ataxia syndrome and neuroblastoma: The Memorial Sloan Kettering experience. 61
32543116 2020
3
Paraneoplastic opsoclonus myoclonus syndrome associated with inflammatory myofibroblastic tumor in a pediatric patient. 61
32472953 2020
4
Lamotrigine Toxicosis Treated with Intravenous Lipid Emulsion Therapy in a Dog. 61
32412333 2020
5
Canine distemper virus induces downregulation of GABAA,GABAB, and GAT1 expression in brain tissue of dogs. 61
32253618 2020
6
Use of subcutaneous fluids in palliative care with children: a case study. 61
32537962 2020
7
[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases]. 61
32571458 2020
8
MRI and EEG accurately classify favorable prognosis for patients with postanoxic myoclonus: Paradigm shift. 61
32482843 2020
9
Ondansetron-Induced Myoclonus With Escitalopram and Highly Active Antiretroviral Therapy: A Closer Look at 5-HT3 Receptors. 61
32569451 2020
10
Bilateral asymmetric auricular myoclonus as a manifestation of focal motor seizure: Phenomenology, potential lateralizing value, and insights into auricular motor control. 61
32169742 2020
11
Palato-pharyngo-laryngeal myoclonus with recurrent retrograde feeding tube migration after cerebellar hemorrhagic stroke: a case report and review of hypertrophic olivary degeneration. 61
32493244 2020
12
A rare case of Opsoclonus-Myoclonus associated with SCLC. 61
32557266 2020
13
Perampanel in refractory post-hypoxic myoclonus: see the difference! 61
31848939 2020
14
Anti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature. 61
32527295 2020
15
MRI-EEG correlation for outcome prediction in postanoxic myoclonus: A multicenter study. 61
32482841 2020
16
Infection-Associated Opsoclonus: A Retrospective Case Record Analysis and Review of Literature. 61
32216501 2020
17
"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation. 61
32577866 2020
18
Antidepressants and movement disorders: a postmarketing study in the world pharmacovigilance database. 61
32546134 2020
19
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation. 61
32559632 2020
20
Spinal segmental myoclonus following spinal surgery. 61
32530327 2020
21
Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6. 61
32518081 2020
22
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy. 61
32378798 2020
23
Topiramate-Associated Movement Disorder: Case Series and Literature Review. 61
32541330 2020
24
Natural Course of Myoclonus-Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry. 61
32212347 2020
25
A Case Report of Myoclonus-Dystonia with Isolated Myoclonus Phenotype and Novel Mutation Successfully Treated with Deep Brain Stimulation. 61
32274660 2020
26
Serum IgG-induced microglial activation enhances neuronal cytolysis via the NO/sGC/PKG pathway in children with opsoclonus-myoclonus syndrome and neuroblastoma. 61
32546235 2020
27
A Case of Creutzfeldt-Jakob Disease with Stroke-Like Onset. 61
32234269 2020
28
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases. 61
32517081 2020
29
Semiology of spontaneous generalized tonic-clonic seizures in the epileptic baboon. 61
32524046 2020
30
FDG-PET assessment and metabolic patterns in Lafora disease. 61
31858178 2020
31
Diagnosis of Stapedial Myoclonus Using Endoscopic Visualization. 61
32472916 2020
32
Hypertrophic Olivary Degeneration and Holmes Tremor: Case Report and Review of the Literature. 61
32084623 2020
33
[ANTIBIOTIC-ASSOCIATED ENCEPHALOPATHY]. 61
32431129 2020
34
Out of sight: a lesson in drug errors. 61
32001662 2020
35
Clinical and genetic characteristics of type I sialidosis patients in mainland China. 61
32472645 2020
36
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. 61
32453490 2020
37
Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease. 61
32418279 2020
38
A high prevalence of arterial hypertension in patients with mitochondrial diseases. 61
31762033 2020
39
Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene 61
32364361 2020
40
Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies. 61
32170042 2020
41
Generalized myoclonus in COVID-19. 61
32439821 2020
42
Unravelling the enigma of cortical tremor and other forms of cortical myoclonus. 61
32417917 2020
43
Movement disorders after hypoxic brain injury following cardiac arrest in adults. 61
32416613 2020
44
Functional movement disorders. 61
31606137 2020
45
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. 61
32369665 2020
46
The use of next-generation sequencing to unravel new genes: overcoming challenges posed by rare neurological disorders such as myoclonus-dystonia. 61
32365425 2020
47
Life-Threatening Serotonin Syndrome Precipitated by Discontinuation of Serotonin-Dopamine Antagonist in the Presence of Serotonergic Agents: A Case Report. 61
32217863 2020
48
Carbamazepine-, Oxcarbazepine-, Eslicarbazepine-Associated Movement Disorder: A Literature Review. 61
32384309 2020
49
Perampanel for nonepileptic myoclonus in Angelman syndrome. 61
32164978 2020
50
Stress cardiomyopathy associated with area postrema syndrome as a presentation of neuromyelitis optica: case report. 61
32438902 2020

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter)SNV Pathogenic 590778 rs1569149539 22:42608718-42608718 22:42212712-42212712
2 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs)deletion Pathogenic 813003 19:36214713-36214719 19:35723812-35723818
3 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs)duplication Pathogenic 373993 rs1057518821 1:43396342-43396343 1:42930671-42930672
4 46;XX;t(1;5)(p31;q33)dnTranslocation Likely pathogenic 267832
5 TNXB NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)deletion Uncertain significance 523526 rs754439905 6:32035630-32035633 6:32067853-32067856
6 TNXB NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)SNV Uncertain significance 523525 rs776883744 6:32038130-32038130 6:32070353-32070353
7 FUS NM_004960.3(FUS):c.13+11_13+13deldeletion Uncertain significance 374092 rs1057518893 16:31191558-31191560 16:31180237-31180239

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 cytoplasmic side of endoplasmic reticulum membrane GO:0098554 8.62 EPM2AIP1 EPM2A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of protein kinase activity GO:0045859 9.32 NHLRC1 EPM2A
2 regulation of protein localization to plasma membrane GO:1903076 9.26 NHLRC1 EPM2A
3 glycogen biosynthetic process GO:0005978 9.16 NHLRC1 EPM2A
4 regulation of protein ubiquitination GO:0031396 8.96 NHLRC1 EPM2A
5 cellular macromolecule metabolic process GO:0044260 8.62 NHLRC1 EPM2A

Sources for Myoclonus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
71 UMLS
72 UMLS via Orphanet
Content
Loading form....