Aliases & Classifications for Myoclonus

MalaCards integrated aliases for Myoclonus:

Name: Myoclonus 54 29 6

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 dystonia 11, myoclonic and progressive myoclonus epilepsy. An important gene associated with Myoclonus is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Midazolam and Propofol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are behavior/neurological and cellular

Wikipedia : 76 Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. It describes a medical... more...

Related Diseases for Myoclonus

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

(show top 50) (show all 392)
# Related Disease Score Top Affiliating Genes
1 dystonia 11, myoclonic 33.2 SGCE SLC2A1
2 progressive myoclonus epilepsy 32.8 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
3 unverricht-lundborg syndrome 32.6 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
4 myoclonic epilepsy of lafora 32.6 CSTB EPM2A NHLRC1
5 myoclonus epilepsy 32.4 CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
6 myoclonic epilepsy of unverricht and lundborg 32.3 CSTB EPM2A SCARB2
7 early myoclonic encephalopathy 31.7 CSTB EPM2A
8 dystonia 30.9 CSTB SGCE SLC2A1
9 epilepsy 30.0 CERS1 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1
10 benign epilepsy with centrotemporal spikes 29.3 CSTB EPM2A SLC2A1
11 opsoclonus-myoclonus syndrome 12.7
12 myoclonus, familial cortical 12.5
13 prickle1-related progressive myoclonus epilepsy with ataxia 12.4
14 progressive myoclonus epilepsy, lafora type 12.3
15 propriospinal myoclonus 12.3
16 myoclonus, intractable, neonatal 12.3
17 myoclonus, cerebellar ataxia, and deafness 12.3
18 gosr2-related progressive myoclonus ataxia 12.1
19 myoclonus and ataxia 12.1
20 epilepsy, progressive myoclonic, 4, with or without renal failure 12.1
21 progressive encephalomyelitis with rigidity and myoclonus 12.1
22 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.1
23 myoclonic epilepsy associated with ragged-red fibers 11.9
24 myoclonus epilepsy partial seizure 11.9
25 early-onset progressive encephalopathy with migrant continuous myoclonus 11.9
26 neuraminidase deficiency 11.9
27 spinal muscular atrophy with progressive myoclonic epilepsy 11.9
28 epilepsy, progressive myoclonic, 6 11.9
29 epilepsy, progressive myoclonic 7 11.8
30 periodic limb movement disorder 11.8
31 myoclonic cerebellar dyssynergia 11.7
32 epilepsy, idiopathic generalized 10 11.7
33 epileptic encephalopathy, early infantile, 6 11.7
34 epilepsy, progressive myoclonic, 1b 11.7
35 epilepsy, familial adult myoclonic, 2 11.6
36 parasomnia, sleep bruxism type 11.5
37 epilepsy, progressive myoclonic, 8 11.5
38 epilepsy, progressive myoclonic, 9 11.5
39 geniospasm 1 11.4
40 galactosialidosis 11.4
41 glycoproteinosis 11.4
42 dentatorubral-pallidoluysian atrophy 11.3
43 chorea, benign hereditary 11.3
44 psychogenic movement 11.3
45 stiff-person syndrome 11.2
46 corticobasal degeneration 11.2
47 hereditary geniospasm 11.2
48 creutzfeldt-jakob disease 11.2
49 mitochondrial myopathy 11.2
50 myoclonic encephalopathy of infants 11.2

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 10.1 CERS1 CSTB EPM2A KIF5A NEU1 NHLRC1
2 cellular MP:0005384 10.07 CERS1 CSTB EPM2A KIF5A NEU1 NHLRC1
3 growth/size/body region MP:0005378 9.92 CERS1 CSTB EPM2A KIF5A NEU1 PRICKLE1
4 homeostasis/metabolism MP:0005376 9.86 CERS1 EPM2A KIF5A NEU1 NHLRC1 NOL3
5 muscle MP:0005369 9.7 CSTB EPM2A NEU1 NHLRC1 NOL3 PRICKLE1
6 nervous system MP:0003631 9.65 CERS1 CSTB EPM2A KIF5A NEU1 NHLRC1
7 no phenotypic analysis MP:0003012 9.02 CSTB NEU1 NHLRC1 PRICKLE1 SLC2A1

Drugs & Therapeutics for Myoclonus

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

(show top 50) (show all 142)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4,Not Applicable 59467-70-8 4192
2
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
3
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Not Applicable 437-38-7 3345
5
Remifentanil Approved Phase 4 132875-61-7 60815
6
Cisatracurium Approved Phase 4 96946-41-7
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
8
Etomidate Approved Phase 4,Not Applicable 33125-97-2 667484 36339
9
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11
Valproic Acid Approved, Investigational Phase 4,Not Applicable 99-66-1 3121
12
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
13
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
14
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
16 Anti-Anxiety Agents Phase 4,Not Applicable
17 Psychotropic Drugs Phase 4,Not Applicable
18 Analgesics, Non-Narcotic Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
22 Neuromuscular Blocking Agents Phase 4
23 Pharmaceutical Solutions Phase 4,Phase 3
24 Adrenergic alpha-2 Receptor Agonists Phase 4
25 Anesthetics Phase 4,Not Applicable
26 Anesthetics, Intravenous Phase 4,Not Applicable
27 Cholinergic Antagonists Phase 4
28 Cholinergic Agents Phase 4,Not Applicable
29 Adjuvants, Anesthesia Phase 4,Not Applicable
30 Neuromuscular Nondepolarizing Agents Phase 4
31 Narcotics Phase 4,Phase 2,Not Applicable
32 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
33 Adrenergic Agonists Phase 4
34 Tranquilizing Agents Phase 4,Not Applicable
35 Analgesics, Opioid Phase 4,Phase 2,Not Applicable
36 GABA Agents Phase 4,Not Applicable
37 Neuromuscular Agents Phase 4
38 Adrenergic Agents Phase 4
39 GABA Modulators Phase 4,Not Applicable
40 Analgesics Phase 4,Phase 2,Not Applicable
41 Hypnotics and Sedatives Phase 4,Not Applicable
42 Anesthetics, General Phase 4,Not Applicable
43 Citrate Phase 4
44 Anti-Arrhythmia Agents Phase 4
45 Anesthetics, Local Phase 4
46 Diuretics, Potassium Sparing Phase 4
47 Sodium Channel Blockers Phase 4
48 Anticonvulsants Phase 4,Phase 3,Not Applicable
49 Antimanic Agents Phase 4
50
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus 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 Etomidate, Propofol and Etomidate-propofol Combination in Terms of Effects on Haemodynamic Response to Intubation Completed NCT02186990 Phase 4 propofol;etomidate;etomidate-propofol
5 Etomidate vs Propofol-Induction Characteristics Completed NCT02807610 Phase 4 Inj Etomidate;Injection Propofol;Placebo for Propofol
6 Sole Local Anesthetic Versus Opioid Plus Local Anesthesia in Epidural Labor Analgesia Completed NCT02036242 Phase 4 Sole local anesthetic;Sufentanil (Opioid plus local anesthetic);Ropivacaine
7 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3 zonegran;placebo
8 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
9 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
10 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
11 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3 Levetiracetam
12 Piracetam for Treatment Tardive Dyskinesia Completed NCT00190008 Phase 3 piracetam
13 Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
14 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
15 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
16 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
17 Effectiveness of Rituximab in Pediatric OMS Patients. Completed NCT00244361 Phase 1, Phase 2 rituximab
18 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
19 Stem Cell Transplantation for Stiff Person Syndrome (SPS) Recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
20 A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Enrolling by invitation NCT02678689 Phase 2
21 Pilot Efficacy Study of T2000 in Myoclonus Dystonia Terminated NCT00506012 Phase 2 T2000
22 Role of Methadone As Co-Opioid Analgesic Terminated NCT00558870 Phase 2 Morphine;Methadone
23 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
24 Tonicity Monitor For Epilepsy and Hypertonic Disorders Unknown status NCT02110589 Not Applicable
25 Study of Cytokines in Children With Opsoclonus-Myoclonus Syndrome Completed NCT00806182
26 Parenteral Hydration in Advanced Cancer Patients Completed NCT00423722 Not Applicable Saline;Saline
27 Ketogenic Diet in Lafora Disease Completed NCT00007124
28 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Not Applicable Tacrolimus
29 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
30 Cardiac Arrhythmias in Dravet Syndrome Completed NCT02415686
31 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
32 Neurodevelopment Outcomes Following Severe Hand Foot and Mouth Disease in Vietnam Completed NCT02066714
33 Etomidate Emulsion for Sedation in Patients Scheduled for Upper Gastrointestinal (GI) Endoscopy Completed NCT01729897 Not Applicable Etomidate;Fentanyl;Propofol
34 Efficacy of Auricular Acupuncture on Neonatal Abstinence Syndrome Completed NCT02872077 Not Applicable
35 CO2 Monitoring Study Completed NCT02068274
36 Predictive Markers of the Effects of Opioid Therapy Completed NCT02308306
37 Agency in Dystonia Recruiting NCT03351218 Not Applicable
38 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
39 Nervous System Degeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
40 Versailles Hospital Cardiac Arrest Registry Recruiting NCT03594318
41 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Recruiting NCT02886039 Not Applicable
42 Neurological Outcomes After In-Hospital Cardiac Arrest Recruiting NCT03006484
43 TELSTAR: Treatment of ELectroencephalographic STatus Epilepticus After Cardiopulmonary Resuscitation Recruiting NCT02056236 Not Applicable Anti-epileptic drugs
44 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 The Link Between Clinical and Physiological Sleep Data and Health-related Outcomes Recruiting NCT03383354
46 Multimodal Assessment of the Neurological Prognosis of Patients With Brain Lesions on ExtraCorporeal Life Support Recruiting NCT03633981
47 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
48 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208 Not Applicable
49 Sub-dissociative Intranasal Ketamine for Pediatric Sickle Cell Pain Crises Recruiting NCT02573714 Not Applicable Ketamine;Normal Saline

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:

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

Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 1643)
# Title Authors Year
1
Treatment of objective tinnitus with transpalatal Botox® injection in a pediatric patient with middle ear myoclonus: A case report. ( 30554701 )
2019
2
HIV-associated opsoclonus-myoclonus-ataxia syndrome: early infection, immune reconstitution syndrome or secondary to other diseases? Case report and literature review. ( 29243132 )
2018
3
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. ( 29605618 )
2018
4
Acute transverse myelitis following an opsoclonus-myoclonus syndrome: An unusual presentation. ( 29773357 )
2018
5
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child. ( 29951721 )
2018
6
A case of adult-onset poststreptococcal opsoclonus-myoclonus syndrome. ( 29713906 )
2018
7
Ocular bobbing/dipping after cardiac arrest may be a post-anoxic myoclonus. ( 29307541 )
2018
8
Functional myoclonus: Time to stop jerking around with negative diagnosis. ( 29731145 )
2018
9
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. ( 29726066 )
2018
10
Identification of a Novel Homozygous Splice-Site Mutation in <i>SCARB2</i> that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. ( 29941711 )
2018
11
Opsoclonus-Myoclonus Syndrome-Reply. ( 29522060 )
2018
12
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
13
Exaggerated startle in post-infectious opsoclonus myoclonus syndrome. ( 29729591 )
2018
14
Abnormal motor cortical adaptation to external stimulus in Unverricht-Lundborg disease (progressive myoclonus type 1, EPM1). ( 29742025 )
2018
15
Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy. ( 29760005 )
2018
16
Teaching Video NeuroImages: Delayed hemibody myorhythmia and palatal myoclonus after vertebrobasilar stroke. ( 29438032 )
2018
17
Unexpected Falls During Clozapine Treatment Explained by Myoclonus. ( 29360288 )
2018
18
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40a8^years. ( 29429788 )
2018
19
Methylphenidate-Associated Onychotillomania, Myoclonus, and Enuresis Reversed by Switching to Atomoxetine. ( 29927775 )
2018
20
Pharmacological rescue of mutated K<sub>v</sub>3.1 ion-channel linked to progressive myoclonus epilepsies. ( 29894724 )
2018
21
Acute inability to mobilise resulting from probable donepezil-induced myoclonus. ( 29939205 )
2018
22
Electrophysiologic testing aids diagnosis and subtyping of myoclonus. ( 29352095 )
2018
23
Opsoclonus-Myoclonus Syndrome-Additional Clinical Considerations. ( 29522119 )
2018
24
Corrigendum to &amp;quot;Dexamethasone, Intravenous Immunoglobulin, and Rituximab Combination Immunotherapy for Pediatric Opsoclonus-Myoclonus Syndrome&amp;quot; [Pediatric Neurology 73 (2017) 48-56]. ( 29169865 )
2018
25
Multifactorial analysis of opsoclonus-myoclonus syndrome etiology (&amp;quot;Tumor&amp;quot; vs. &amp;quot;No tumor&amp;quot;) in a cohort of 356 US children. ( 29727049 )
2018
26
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. ( 29952836 )
2018
27
Progressive encephalomyelitis with rigidity and myoclonus, a diagnostic challenge. ( 29685428 )
2018
28
Conservative management of severe serotonin syndrome with coma, myoclonus, and crossed-extensor reflex complicated by hepatic encephalopathy. ( 29686575 )
2018
29
Treatment of Post Anoxic Action Myoclonus with Intrathecal Baclofen: A Case Report. ( 29366919 )
2018
30
Spinal myoclonus selectively affecting the platysma after cervical laminectomy. ( 29967202 )
2018
31
Effects of transcutaneous acupoint electrical stimulation combined with low-dose sufentanil pretreatment on the incidence and severity of etomidate-induced myoclonus: A randomized controlled trial. ( 29879048 )
2018
32
Ipilimumab/Nivolumab-related Opsoclonus-Myoclonus-Ataxia Syndrome Variant in a Patient with Malignant Pleural Mesothelioma. ( 29742520 )
2018
33
Reappraisal of cortical myoclonus: A retrospective study of clinical neurophysiology. ( 29193325 )
2018
34
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )
2018
35
Dexamethasone-Based Multimodal Therapy for Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: Is It Really Superior? ( 29169870 )
2018
36
Electro-clinical Characteristics and Prognostic Significance of Post Anoxic Myoclonus. ( 29964146 )
2018
37
Transcranial magnetic stimulation in myoclonus of different aetiologies. ( 29803873 )
2018
38
Comparison of priming versus slow injection for reducing etomidate-induced myoclonus: a randomized controlled study. ( 29843203 )
2018
39
Elderly woman presenting with unusual propriospinal myoclonus triggered by drug-induced nausea and vomiting. ( 29542295 )
2018
40
Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1. ( 29396360 )
2018
41
Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. ( 29376112 )
2018
42
Myoclonus in Angelman syndrome. ( 29555100 )
2018
43
Treatment of Myoclonus-dystonia with carbamazepine. ( 29853296 )
2018
44
Clinicopathological case: rapid cognitive decline and myoclonus associated with fever, arthropathy and scleritis. ( 30425126 )
2018
45
Early myoclonus following anoxic brain injury. ( 30105165 )
2018
46
Understanding post-cardiac arrest myoclonus. ( 30086375 )
2018
47
Opsoclonus-myoclonus-ataxia syndrome associated with chikungunya and dengue virus co-infection. ( 30076990 )
2018
48
Effectiveness of Combining Behavioral Treatment With Valproic Acid for Dysphagia Caused by Palatal Myoclonus in Patients With Stroke: Two Case Reports. ( 29560339 )
2018
49
Thalamus Stimulation for Myoclonus-Dystonia Syndrome: Five Cases and Long-term Follow-up. ( 30419400 )
2018
50
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability. ( 29607243 )
2018

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
2 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh37 Chromosome 1, 43396343: 43396343
3 FUS NM_004960.3(FUS): c.13+10_13+12delGGC deletion Uncertain significance rs1057518893 GRCh37 Chromosome 16, 31191558: 31191560
4 FUS NM_004960.3(FUS): c.13+10_13+12delGGC deletion Uncertain significance rs1057518893 GRCh38 Chromosome 16, 31180237: 31180239
5 TNXB NM_019105.6(TNXB): c.6349_6352delGTCC (p.Val2117Profs) deletion Uncertain significance GRCh38 Chromosome 6, 32067853: 32067856
6 TNXB NM_019105.6(TNXB): c.6349_6352delGTCC (p.Val2117Profs) deletion Uncertain significance GRCh37 Chromosome 6, 32035630: 32035633
7 TNXB NM_019105.6(TNXB): c.5052C> A (p.Asp1684Glu) single nucleotide variant Uncertain significance rs776883744 GRCh37 Chromosome 6, 32038130: 32038130
8 TNXB NM_019105.6(TNXB): c.5052C> A (p.Asp1684Glu) single nucleotide variant Uncertain significance rs776883744 GRCh38 Chromosome 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 cytosol GO:0005829 9.76 CSTB EPM2A KCTD7 KIF5A NHLRC1 NOL3
2 cytoplasm GO:0005737 9.61 CSTB EPM2A KCTD7 KIF5A NEU1 NOL3
3 membrane GO:0016020 9.32 CERS1 EPM2A KCTD7 KIF5A NEU1 NOL3

Biological processes related to Myoclonus 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 for Myoclonus

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
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