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 sgce myoclonus-dystonia. An important gene associated with Myoclonus is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Cisatracurium and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 863)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 34.2 NHLRC1 EPM2A
2 sgce myoclonus-dystonia 33.6 SGCE DRD2
3 myoclonic epilepsy of unverricht and lundborg 33.4 SCARB2 EPM2A CSTB
4 myoclonic epilepsy associated with ragged-red fibers 33.3 KCTD7 EPM2A CSTB
5 glycoproteinosis 33.2 NHLRC1 NEU1 CSTB
6 unverricht-lundborg syndrome 33.0 SCARB2 PRICKLE1 NHLRC1 EPM2A CSTB
7 myoclonic epilepsy of lafora 32.5 NHLRC1 EPM2AIP1 EPM2A CSTB
8 epilepsy, myoclonic juvenile 31.9 SLC2A1 NHLRC1 EPM2A CSTB
9 myoclonus epilepsy 31.9 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A CSTB
10 early myoclonic encephalopathy 31.6 SCN8A NHLRC1 KCTD7 EPM2A CSTB
11 progressive myoclonus epilepsy 31.5 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7 EPM2AIP1
12 choreatic disease 30.5 SGCE DRD2
13 movement disease 30.3 SLC2A1 SGCE DRD2
14 dementia 29.9 NHLRC1 EPM2A DRD2 CSTB
15 visual epilepsy 29.8 SLC2A1 NHLRC1 KCTD7 EPM2A
16 focal hand dystonia 29.6 SGCE DRD2
17 neuroleptic malignant syndrome 29.2 NHLRC1 DRD2
18 benign epilepsy with centrotemporal spikes 29.2 SLC2A1 EPM2A CSTB
19 dystonia, dopa-responsive 29.1 SLC2A1 SGCE
20 childhood absence epilepsy 28.9 SLC2A1 SCN8A EPM2A
21 epilepsy, idiopathic generalized 28.8 SLC2A1 SCN8A EPM2AIP1 CSTB
22 epilepsy 27.7 SLC2A1 SCN8A SCARB2 PRICKLE1 NHLRC1 LOC109029533
23 opsoclonus-myoclonus syndrome 12.8
24 myoclonus, familial, 1 12.7
25 prickle1-related progressive myoclonus epilepsy with ataxia 12.6
26 progressive myoclonus epilepsy 6 12.5
27 myoclonus, familial, 2 12.5
28 myoclonus, intractable, neonatal 12.5
29 myoclonus, cerebellar ataxia, and deafness 12.5
30 progressive myoclonus epilepsy 7 12.5
31 progressive myoclonus epilepsy 4 12.4
32 progressive myoclonus epilepsy 3 12.4
33 propriospinal myoclonus 12.4
34 dystonia 11, myoclonic 12.4
35 progressive myoclonus epilepsy 8 12.3
36 epilepsy, progressive myoclonic, 4, with or without renal failure 12.3
37 progressive myoclonus epilepsy 9 12.3
38 progressive myoclonus epilepsy 10 12.3
39 spinal muscular atrophy with progressive myoclonic epilepsy 12.2
40 myoclonus and ataxia 12.2
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 progressive myoclonus epilepsy 1b 12.0
47 progressive myoclonus epilepsy 1a 12.0
48 myoclonus epilepsy partial seizure 12.0
49 epilepsy and/or ataxia with myoclonus as major feature 12.0
50 non progressive epilepsy and/or ataxia 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

GenomeRNAi Phenotypes related to Myoclonus according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 DRD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.36 SLC2A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.36 SGCE
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.36 DRD2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.36 DRD2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.36 SGCE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.36 DRD2 SGCE SLC2A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.36 SLC2A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.36 SGCE

MGI Mouse Phenotypes related to Myoclonus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 CERS1 CSTB DRD2 EPM2A EPM2AIP1 KIF5A
2 cellular MP:0005384 10.18 CERS1 CSTB DRD2 EPM2A KIF5A NEU1
3 growth/size/body region MP:0005378 10.18 CERS1 CSTB DRD2 EPM2A EPM2AIP1 KIF5A
4 homeostasis/metabolism MP:0005376 10.1 CERS1 DRD2 EPM2A EPM2AIP1 KIF5A NEU1
5 muscle MP:0005369 9.96 CSTB DRD2 EPM2A EPM2AIP1 NEU1 NHLRC1
6 nervous system MP:0003631 9.93 CERS1 CSTB DRD2 EPM2A KIF5A NEU1
7 no phenotypic analysis MP:0003012 9.43 CSTB DRD2 NEU1 NHLRC1 PRICKLE1 SLC2A1
8 respiratory system MP:0005388 9.1 DRD2 KIF5A NEU1 NOL3 PRICKLE1 SCN8A

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
Cisatracurium Approved Phase 4 96946-41-7
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
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
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 Agonists Phase 4
16 Adrenergic alpha-2 Receptor Agonists Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Citrate Phase 4
19 Neuromuscular Agents Phase 4
20 Neuromuscular Nondepolarizing Agents Phase 4
21 Pharmaceutical Solutions Phase 4
22 Neuromuscular Blocking Agents Phase 4
23 Cholinergic Antagonists Phase 4
24 Adrenergic Agents Phase 4
25 Anesthetics, Local Phase 4
26 Anti-Arrhythmia Agents Phase 4
27 Sodium Channel Blockers Phase 4
28 Diuretics, Potassium Sparing Phase 4
29 Antimanic Agents Phase 4
30 Tranquilizing Agents Phase 4
31 Anti-Anxiety Agents Phase 4
32 Psychotropic Drugs Phase 4
33 Adjuvants, Anesthesia Phase 4
34 Anesthetics, General Phase 4
35 GABA Agents Phase 4
36 Hypnotics and Sedatives Phase 4
37 Anesthetics, Intravenous Phase 4
38 GABA Modulators Phase 4
39
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
40
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
41
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
42
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
43
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
44
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
45 Calcium, Dietary Phase 3
46 calcium channel blockers Phase 3
47 Rho(D) Immune Globulin Phase 3
48 Immunoglobulins, Intravenous Phase 3
49 gamma-Globulins Phase 3
50 Corticotropin-Releasing Hormone Phase 3

Interventional clinical trials:

(show top 50) (show all 55)
# 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 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
7 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
8 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
9 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
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 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 Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest Unknown status NCT02886039
24 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
25 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
26 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
27 Effects of Levetiracetam on Cortical Excitability in Humans Completed NCT00006191
28 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
29 Immunotherapy of the Paraneoplastic Syndromes Completed NCT00378326 Tacrolimus
30 A Prospective Cohort Study Evaluating Prognostic Indicators and Sequelae Following Severe Hand Foot and Mouth Disease Completed NCT02066714
31 Continuous Monitoring of Patients Treated With Opioids for Chronic Pain and Its Impact on Patient Safety. A Feasibility Trial. Completed NCT02068274
32 Parenteral Hydration in Advanced Cancer Patients - A Randomized Controlled Trial Completed NCT00423722 Saline;Saline
33 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Recruiting NCT03876522
34 Versailles Hospital Cardiac Arrest Registry Recruiting NCT03594318
35 Neuronal Correlates of Agency in Dystonia Recruiting NCT03351218
36 A Training Protocol for the Use of Botulinum Toxin in the Treatment of Neurological Disorders Recruiting NCT00001208
37 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
38 Noncontact Vital Sign Monitoring Using Impulse Radio Ultra-wideband (IR-UWB) Radar in Neonates and Children Recruiting NCT03622996
39 Epidemiology and Pathophysiology of Parkinsonism in the Caribbeans Recruiting NCT03368300
40 Neuroblastoma Biology Studies Recruiting NCT00904241
41 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009
42 Natural History Study of Batten's CLN6 Disease Recruiting NCT03285425
43 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol Recruiting NCT01331642
44 Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders Recruiting NCT00029965
45 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298634
46 Biochemical Makers for Outcome Prognostication After Pediatric out-of Hospital Cardiac Arrest: Observational Cohort Trial Recruiting NCT03873662
47 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
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 Validation of the FOUR Coma Scale in Russia. - a Prospective Observational Multi-center Cohort Study Recruiting NCT04018989
50 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673

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, Kidney, Thyroid, Liver, Cortex, Eye

Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 7439)
# Title Authors PMID Year
1
Clinical significance of Kelch-like protein 11 antibodies. 61
31953318 2020
2
Rhythmic Wave Patterns on Ambient Pressure Tympanometry in Patients With Objective Tinnitus-associated Pathologies. 61
31868782 2020
3
Pediatric whole body MRI detects causative ovarian teratoma in opsoclonus myoclonus syndrome. 61
31890069 2020
4
Efficacy upon 12-weeks after achievement of maximal dose and tolerability of lacosamide as an adjunctive therapy in epilepsy: Real world clinical experience. 61
31801052 2020
5
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. 61
31711734 2020
6
Pain and the immune system: emerging concepts of IgG-mediated autoimmune pain and immunotherapies. 61
30224548 2020
7
Clinical characteristics of enterovirus A71 neurological disease during an outbreak in children in Colorado, USA, in 2018: an observational cohort study. 61
31859216 2020
8
Models of hyperkinetic disorders in primates. 61
31857131 2020
9
Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. 61
31758957 2020
10
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic. 61
31932179 2020
11
Spinal Myoclonus: Is It An Anesthetic Mystery? 61
31759616 2020
12
Single-Agent Bupropion Exposures: Clinical Characteristics and an Atypical Cause of Serotonin Toxicity. 61
31823333 2020
13
Propofol infusion syndrome complicated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a case report. 61
31988785 2020
14
Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. 61
31492455 2020
15
Therapeutic results in three cases of ganglioneuroblastoma associated with opsoclonus myoclonus ataxia syndrome. 61
31898588 2020
16
Wernekink commissure syndrome secondary to a rare 'V'-shaped pure midbrain infarction: a case report and review of the literature. 61
31858860 2020
17
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. 61
31957011 2020
18
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. 61
31970214 2020
19
Treatment-refractory paraneoplastic opsoclonus-myoclonus syndrome in a patient with small-cell carcinoma of the lung. 61
30791855 2020
20
Tb1, a Neurotoxin from Tityus bahiensis Scorpion Venom, Induces Epileptic Seizures by Increasing Glutamate Release. 61
31973132 2020
21
PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists. 61
31760202 2020
22
Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation. 61
31956970 2020
23
Visual sensory processing is altered in myoclonus dystonia. 61
31571302 2020
24
Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data. 61
31900736 2020
25
Corrigendum to "Persistence of limb dystonia and myoclonus during sleep in corticobasal syndrome: a case series" [Sleep Med 59 (2019) 107-109]. 61
32008888 2020
26
Shared demographics and comorbidities in different functional motor disorders. 61
31785442 2020
27
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
28
Frontal variant of Alzheimer's disease with asymmetric presentation mimicking frontotemporal dementia: Case report and literature review. 61
31989779 2020
29
Drug Treatment of Progressive Myoclonic Epilepsy. 61
31939107 2020
30
Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome. 61
31514193 2020
31
Principles of Electrophysiological Assessments for Movement Disorders. 61
31986867 2020
32
Teaching Video NeuroImages: Palatal myoclonus in leukodystrophies: A clinical sign orienting to Alexander disease. 61
31932408 2020
33
High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. 61
31561936 2020
34
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. 61
31371146 2020
35
Quality of life outcomes after deep brain stimulation in dystonia: A systematic review. 61
31767450 2020
36
Out of sight: a lesson in drug errors. 61
32001662 2020
37
Knee Buckling (Negative Myoclonus) Associated With Clozapine: Reports on 3 Cases. 61
31738190 2020
38
Treatment of Spinal Myoclonus Due to Degenerative Compression Myelopathy with Cervical Spinal Cord Stimulation: A Report of 2 Cases. 61
31917309 2020
39
Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-β processing effects. 61
31627977 2019
40
Facing the large variety of life-limiting conditions in children. 61
31624947 2019
41
Suspected seizure-survival of a lethal dose of the rodenticide alpha-chloralose. 61
31701172 2019
42
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019
43
SCN1B-linked early infantile developmental and epileptic encephalopathy. 61
31709768 2019
44
A case of GFAP-astroglial autoimmunity presenting with reversible parkinsonism. 61
31881522 2019
45
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. 61
31904124 2019
46
[Opsoclonus myoclonus syndrome secondary to abdominal neuroblastoma. Presentation of a pediatric clinical case]. 61
31758904 2019
47
[Electroclinical characteristics of epilepsy children with midline epileptiform discharges related epileptic negative myoclonus as the first symptom]. 61
31795561 2019
48
Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy. 61
31799456 2019
49
Lyme neuroborreliosis presenting as spinal myoclonus. 61
31888906 2019
50
Benign spasms of infancy: a mimicker of infantile epileptic disorders. 61
31843733 2019

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs)duplication Pathogenic 373993 rs1057518821 1:43396342-43396343 1:42930671-42930672
2 TCF20 NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter)SNV Pathogenic 590778 rs1569149539 22:42608718-42608718 22:42212712-42212712
3 46;XX;t(1;5)(p31;q33)dnTranslocation Likely pathogenic 267832
4 FUS NM_004960.3(FUS):c.13+11_13+13deldeletion Uncertain significance 374092 rs1057518893 16:31191558-31191560 16:31180237-31180239
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

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 autophagy GO:0006914 9.54 NHLRC1 EPM2A DRD2
2 regulation of protein kinase activity GO:0045859 9.32 NHLRC1 EPM2A
3 glycogen biosynthetic process GO:0005978 9.26 NHLRC1 EPM2A
4 regulation of protein localization to plasma membrane GO:1903076 9.16 NHLRC1 EPM2A
5 regulation of protein ubiquitination GO:0031396 8.96 NHLRC1 EPM2A
6 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....