Myoclonus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MYC033 MIFTS: 41	Myoclonus Categories: Neuronal diseases
Genes Variations Tissues Related diseases Publications Drugs Download Expand all tables

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Aliases & Classifications for Myoclonus

MalaCards integrated aliases for Myoclonus:

Name: Myoclonus ⁵⁴ ²⁹ ⁶

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Other extrapyramidal and movement disorders

Myoclonus

External Ids:

ICD10 ³³ G25.3

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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 myoclonic epilepsy of unverricht and lundborg. An important gene associated with Myoclonus is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Lidocaine and Etomidate 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...

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Related Diseases for Myoclonus

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

(show top 50) (show all 365)

#	Related Disease	Score	Top Affiliating Genes
1	dystonia 11, myoclonic	33.1	SGCE SLC2A1
2	myoclonic epilepsy of unverricht and lundborg	32.7	CSTB EPM2A
3	myoclonic epilepsy of lafora	32.0	CSTB EPM2A NHLRC1
4	unverricht-lundborg syndrome	31.0	CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
5	progressive myoclonus epilepsy	30.9	CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
6	early myoclonic encephalopathy	30.7	CSTB EPM2A
7	myoclonus epilepsy	30.6	CERS1 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
8	dystonia	30.1	CSTB SGCE SLC2A1
9	benign epilepsy with centrotemporal spikes	28.7	CSTB EPM2A SLC2A1
10	epilepsy	26.9	CERS1 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1
11	opsoclonus-myoclonus syndrome	12.5
12	myoclonus, familial cortical	12.4
13	prickle1-related progressive myoclonus epilepsy with ataxia	12.2
14	progressive myoclonus epilepsy, lafora type	12.2
15	propriospinal myoclonus	12.1
16	myoclonus, intractable, neonatal	12.1
17	myoclonus, cerebellar ataxia, and deafness	12.1
18	gosr2-related progressive myoclonus ataxia	12.0
19	myoclonus and ataxia	12.0
20	progressive encephalomyelitis with rigidity and myoclonus	11.9
21	epilepsy, progressive myoclonic, 4, with or without renal failure	11.9
22	myoclonic epilepsy associated with ragged-red fibers	11.8
23	branchial myoclonus with spastic paraparesis and cerebellar ataxia	11.8
24	myoclonus epilepsy partial seizure	11.8
25	neuraminidase deficiency	11.8
26	spinal muscular atrophy with progressive myoclonic epilepsy	11.7
27	epilepsy, progressive myoclonic, 6	11.7
28	epilepsy, progressive myoclonic 7	11.6
29	epileptic encephalopathy, early infantile, 6	11.6
30	epilepsy, progressive myoclonic, 1b	11.5
31	epilepsy, idiopathic generalized 10	11.5
32	periodic limb movement disorder	11.5
33	epilepsy, familial adult myoclonic, 2	11.5
34	myoclonic cerebellar dyssynergia	11.4
35	parasomnia, sleep bruxism type	11.3
36	epilepsy, progressive myoclonic, 8	11.3
37	epilepsy, progressive myoclonic, 9	11.3
38	galactosialidosis	11.2
39	benign adult familial myoclonic epilepsy	11.2
40	dentatorubral-pallidoluysian atrophy	11.2
41	chorea, benign hereditary	11.2
42	psychogenic movement	11.2
43	geniospasm 1	11.1
44	corticobasal degeneration	11.1
45	stiff-person syndrome	11.1
46	creutzfeldt-jakob disease	11.0
47	myoclonic encephalopathy of infants	11.0
48	mitochondrial myopathy	11.0
49	ataxia-telangiectasia	11.0
50	hashimoto's encephalitis	11.0

Graphical network of the top 20 diseases related to Myoclonus:

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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	SCARB2 SLC2A1 CERS1 CSTB EPM2A KIF5A
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	NHLRC1 PRICKLE1 SCARB2 SGCE SLC2A1 CERS1
7	no phenotypic analysis	MP:0003012	9.02	CSTB NEU1 NHLRC1 PRICKLE1 SLC2A1

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Drugs & Therapeutics for Myoclonus

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

(show top 50) (show all 123)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Etomidate

Approved

Phase 4

33125-97-2

36339 667484

Remifentanil

Approved

Phase 4

132875-61-7

60815

Atracurium

Approved, Experimental, Investigational

Phase 4

64228-79-1

47319

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Dexmedetomidine

Approved, Vet_approved

Phase 4

113775-47-6

68602 5311068

Valproic Acid

Approved, Investigational

Phase 4

99-66-1

3121

Cisatracurium

Approved

Phase 4

96946-41-7

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Clonazepam

Approved, Illicit

Phase 4

1622-61-3

2802

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

Ropivacaine

Approved

Phase 4

84057-95-4

71273 175805

Sufentanil

Approved, Investigational

Phase 4

56030-54-7

41693

Citric Acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

Analgesics

Phase 4,Phase 2,Not Applicable

Central Nervous System Depressants

Phase 4,Phase 2,Not Applicable

Adjuvants, Anesthesia

Phase 4

Adrenergic Agents

Phase 4

Adrenergic Agonists

Phase 4

Adrenergic alpha-2 Receptor Agonists

Phase 4

Adrenergic alpha-Agonists

Phase 4

Cholinergic Agents

Phase 4,Not Applicable

GABA Agents

Phase 4

Cholinergic Antagonists

Phase 4

GABA Modulators

Phase 4

Narcotics

Phase 4,Phase 2

Sodium Channel Blockers

Phase 4

Neuromuscular Agents

Phase 4

Neuromuscular Blocking Agents

Phase 4

Neuromuscular Nondepolarizing Agents

Phase 4

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Analgesics, Non-Narcotic

Phase 4

Analgesics, Opioid

Phase 4,Phase 2

Anesthetics

Phase 4,Not Applicable

Anesthetics, General

Phase 4,Not Applicable

Anesthetics, Intravenous

Phase 4,Not Applicable

Anesthetics, Local

Phase 4

Tranquilizing Agents

Phase 4

Diuretics, Potassium Sparing

Phase 4

Anti-Anxiety Agents

Phase 4

Anti-Arrhythmia Agents

Phase 4

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Hypnotics and Sedatives

Phase 4

Pharmaceutical Solutions

Phase 4,Phase 3

Anticonvulsants

Phase 4,Phase 3

Psychotropic Drugs

Phase 4

Antimanic Agents

Phase 4

Citrate

Nutraceutical

Phase 4

rituximab

Approved

Phase 3,Phase 2,Phase 1

174722-31-7

10201696

Interventional clinical trials:

(show all 43)

#	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	Efficacy of Auricular Acupuncture on Neonatal Abstinence Syndrome	Not yet recruiting	NCT02872077	Phase 1, Phase 2
22	Pilot Efficacy Study of T2000 in Myoclonus Dystonia	Terminated	NCT00506012	Phase 2	T2000
23	Role of Methadone As Co-Opioid Analgesic	Terminated	NCT00558870	Phase 2	Morphine;Methadone
24	Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation	Completed	NCT00001663	Phase 1
25	Tonicity Monitor For Epilepsy and Hypertonic Disorders	Unknown status	NCT02110589	Not Applicable
26	Study of Cytokines in Children With Opsoclonus-Myoclonus Syndrome	Completed	NCT00806182
27	Parenteral Hydration in Advanced Cancer Patients	Completed	NCT00423722	Not Applicable	Saline;Saline
28	Ketogenic Diet in Lafora Disease	Completed	NCT00007124
29	Immunotherapy of the Paraneoplastic Syndromes	Completed	NCT00378326	Not Applicable	Tacrolimus
30	Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases	Completed	NCT00001667
31	Effect of Levetiracetam on Brain Excitability	Completed	NCT00006191
32	Neurodevelopment Outcomes Following Severe Hand Foot and Mouth Disease in Vietnam	Completed	NCT02066714
33	CO2 Monitoring Study	Completed	NCT02068274
34	Predictive Markers of the Effects of Opioid Therapy	Completed	NCT02308306
35	Agency in Dystonia	Recruiting	NCT03351218	Not Applicable
36	The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias	Recruiting	NCT01373424
37	Predictive Electrophysiological Score of the Neurological Prognosis Post Cardiac Arrest	Recruiting	NCT02886039	Not Applicable
38	Neurological Outcomes After In-Hospital Cardiac Arrest	Recruiting	NCT03006484
39	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
40	The Link Between Clinical and Physiological Sleep Data and Health-related Outcomes	Recruiting	NCT03383354
41	Phenotype/Genotype Correlations in Movement Disorders	Recruiting	NCT00018889
42	Botulinum Toxin for the Treatment of Involuntary Movement Disorders	Recruiting	NCT00001208	Not Applicable
43	Sub-dissociative Intranasal Ketamine for Pediatric Sickle Cell Pain Crises	Recruiting	NCT02573714	Not Applicable	Ketamine;Normal Saline

Search NIH Clinical Center for Myoclonus

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Genetic Tests for Myoclonus

Genetic tests related to Myoclonus:

#	Genetic test	Affiliating Genes
1	Myoclonus ²⁹

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Anatomical Context for Myoclonus

MalaCards organs/tissues related to Myoclonus:

⁴¹

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

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Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 1257)

#	Title	Authors	Year
1	HIV-associated opsoclonus-myoclonus-ataxia syndrome: early infection, immune reconstitution syndrome or secondary to other diseases? Case report and literature review. ( 29243132 )	Guedes B.F....Vidal J.E.	2018
2	Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. ( 29605618 )	Tian W.T....Cao L.	2018
3	Acute transverse myelitis following an opsoclonus-myoclonus syndrome: An unusual presentation. ( 29773357 )	Simon T....Deiva K.	2018
4	Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child. ( 29951721 )	Frattini D....Fusco C.	2018
5	A case of adult-onset poststreptococcal opsoclonus-myoclonus syndrome. ( 29713906 )	Radic B....Nankovic S.	2018
6	Ocular bobbing/dipping after cardiac arrest may be a post-anoxic myoclonus. ( 29307541 )	Schneider J....Alvarez V.	2018
7	Functional myoclonus: Time to stop jerking around with negative diagnosis. ( 29731145 )	Yu X.X....Stone J.	2018
8	Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. ( 29726066 )	Wagnon J.L....Meisler M.H.	2018
9	Identification of a Novel Homozygous Splice-Site Mutation in <i>SCARB2</i> that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. ( 29941711 )	He J....Chen W.J.	2018
10	Opsoclonus-Myoclonus Syndrome-Reply. ( 29522060 )	Hsu S.Y....Young Y.H.	2018
11	Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G&gt;A mutation in the MT-TW gene. ( 29625105 )	Cardaioli E....Dotti M.T.	2018
12	Exaggerated startle in post-infectious opsoclonus myoclonus syndrome. ( 29729591 )	Blackburn D.J....Sarrigiannis P.G.	2018
13	Abnormal motor cortical adaptation to external stimulus in Unverricht-Lundborg disease (progressive myoclonus type 1, EPM1). ( 29742025 )	Julkunen P....Mervaala E.	2018
14	Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy. ( 29760005 )	Xiao F....Wang X.F.	2018
15	Teaching Video NeuroImages: Delayed hemibody myorhythmia and palatal myoclonus after vertebrobasilar stroke. ( 29438032 )	PanadAcs-de Oliveira L....GonzA!lez de la Aleja J.	2018
16	Unexpected Falls During Clozapine Treatment Explained by Myoclonus. ( 29360288 )	McCollum B....de Leon J.	2018
17	Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40a8^years. ( 29429788 )	KA1bler D....KA1hn A.A.	2018
18	Methylphenidate-Associated Onychotillomania, Myoclonus, and Enuresis Reversed by Switching to Atomoxetine. ( 29927775 )	Naguy A....Khraibut B.	2018
19	Pharmacological rescue of mutated K<sub>v</sub>3.1 ion-channel linked to progressive myoclonus epilepsies. ( 29894724 )	Munch A.S....Jespersen T.	2018
20	Acute inability to mobilise resulting from probable donepezil-induced myoclonus. ( 29939205 )	Whateley J.M....Henderson E.J.	2018
21	Electrophysiologic testing aids diagnosis and subtyping of myoclonus. ( 29352095 )	Zutt R....Tijssen M.A.J.	2018
22	Opsoclonus-Myoclonus Syndrome-Additional Clinical Considerations. ( 29522119 )	Kim D.D....Budhram A.	2018
23	Corrigendum to &quot;Dexamethasone, Intravenous Immunoglobulin, and Rituximab Combination Immunotherapy for Pediatric Opsoclonus-Myoclonus Syndrome&quot; [Pediatric Neurology 73 (2017) 48-56]. ( 29169865 )	Pranzatelli M.R....Tate E.D.	2018
24	Multifactorial analysis of opsoclonus-myoclonus syndrome etiology (&quot;Tumor&quot; vs. &quot;No tumor&quot;) in a cohort of 356 US children. ( 29727049 )	Pranzatelli M.R....McGee N.R.	2018
25	Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. ( 29952836 )	Roze E....Vidailhet M.	2018
26	Progressive encephalomyelitis with rigidity and myoclonus, a diagnostic challenge. ( 29685428 )	Wirth T....Tranchant C.	2018
27	Conservative management of severe serotonin syndrome with coma, myoclonus, and crossed-extensor reflex complicated by hepatic encephalopathy. ( 29686575 )	Ramachandran V....Novakovic M.	2018
28	Treatment of Post Anoxic Action Myoclonus with Intrathecal Baclofen: A Case Report. ( 29366919 )	Whitlock J.A....Dumigan R.W.	2018
29	Spinal myoclonus selectively affecting the platysma after cervical laminectomy. ( 29967202 )	Uzawa A....Kuwabara S.	2018
30	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 )	Lv Y....Wang J.	2018
31	Ipilimumab/Nivolumab-related Opsoclonus-Myoclonus-Ataxia Syndrome Variant in a Patient with Malignant Pleural Mesothelioma. ( 29742520 )	Maller B....Tanvetyanon T.	2018
32	Reappraisal of cortical myoclonus: A retrospective study of clinical neurophysiology. ( 29193325 )	Latorre A....Cordivari C.	2018
33	Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991 )	Rubio-Villena C....Sanz P.	2018
34	Dexamethasone-Based Multimodal Therapy for Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: Is It Really Superior? ( 29169870 )	Sharawat I.K....Suthar R.	2018
35	Electro-clinical Characteristics and Prognostic Significance of Post Anoxic Myoclonus. ( 29964146 )	Dhakar M.B....Gilmore E.J.	2018
36	Transcranial magnetic stimulation in myoclonus of different aetiologies. ( 29803873 )	Nardone R....Trinka E.	2018
37	Comparison of priming versus slow injection for reducing etomidate-induced myoclonus: a randomized controlled study. ( 29843203 )	Mullick P....Pawar M.	2018
38	Elderly woman presenting with unusual propriospinal myoclonus triggered by drug-induced nausea and vomiting. ( 29542295 )	Ahn B.J....Kwon K.Y.	2018
39	Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1. ( 29396360 )	Rossi Sebastiano D....Canafoglia L.	2018
40	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 )	de Alarcon P.A....Cohn S.L.	2018
41	Myoclonus in Angelman syndrome. ( 29555100 )	Pollack S.F....Thibert R.L.	2018
42	Treatment of Myoclonus-dystonia with carbamazepine. ( 29853296 )	Sanjari Moghaddam H....Aghamollaii V.	2018
43	Genomic Profiles of Neuroblastoma Associated With Opsoclonus Myoclonus Syndrome. ( 29135842 )	Hero B....Schleiermacher G.	2018
44	Using dezocine to prevent etomidate-induced myoclonus: a meta-analysis of randomized trials. ( 28761332 )	Zhu Y....Bao Z.	2017
45	The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719 )	van Egmond M.E....de Koning T.J.	2017
46	Rapid Resolution of Enterovirus 71-Associated Opsoclonus Myoclonus Syndrome on Intravenous Immunoglobulin. ( 28975137 )	Sahly A....SAcbire G.	2017
47	Teaching Video NeuroImages: Maneuvers to elicit opsoclonus in opsoclonus-myoclonus syndrome. ( 28416624 )	Mahoney K.W....Zhang J.	2017
48	Brain volumetric analysis and cortical thickness in adults with saccadic intrusions (ocular flutter or opsoclonus-myoclonus syndrome). ( 29121544 )	IbA!A+ez-JuliA! M.J....Alentorn A.	2017
49	Myoclonus in the elderly: A retrospective analysis of clinical and electrophysiological characteristics of patients referred to an electrophysiology laboratory. ( 29326035 )	Kiziltan M.E....Kiziltan G.	2017
50	A case of Bickerstaff brainstem encephalitis with transient reflex myoclonus. ( 28637936 )	Takaki R....Takiyama Y.	2017

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Genes for Myoclonus

Genes related to Myoclonus (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	406.68	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	PRICKLE1	Prickle Planar Cell Polarity Protein 1	Protein Coding	47.36	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	EPM2A	EPM2A, Laforin Glucan Phosphatase	Protein Coding	45.68	GeneCards inferred via : Publications Gene name Summaries Transcripts (show sections)
4	SGCE	Sarcoglycan Epsilon	Protein Coding	36.88	GeneCards inferred via : Disorders Publications Summaries (show sections)
5	NEU1	Neuraminidase 1	Protein Coding	35.48	GeneCards inferred via : Disorders Publications Summaries (show sections)
6	SCARB2	Scavenger Receptor Class B Member 2	Protein Coding	35.42	GeneCards inferred via : Disorders Publications Summaries (show sections)
7	NOL3	Nucleolar Protein 3	Protein Coding	34.78	GeneCards inferred via : Disorders Publications Variants (show sections)
8	CERS1	Ceramide Synthase 1	Protein Coding	34.61	GeneCards inferred via : Disorders Publications Summaries (show sections)
9	KIF5A	Kinesin Family Member 5A	Protein Coding	34.07	GeneCards inferred via : Disorders Publications Variants (show sections)
10	CSTB	Cystatin B	Protein Coding	26.96	GeneCards inferred via : Disorders Publications (show sections)
11	KCTD7	Potassium Channel Tetramerization Domain Containing 7	Protein Coding	26.51	GeneCards inferred via : Disorders Publications (show sections)
12	NHLRC1	NHL Repeat Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	26.33	GeneCards inferred via : Publications Gene name (show sections)

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Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1		46;XX;t(1;5)(p31;q33)dn	Translocation	Likely pathogenic
2	SLC2A1	NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs)	duplication	Pathogenic	rs1057518821	GRCh38	Chromosome 1, 42930672: 42930672
3	SLC2A1	NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs)	duplication	Pathogenic	rs1057518821	GRCh37	Chromosome 1, 43396343: 43396343
4	FUS	NM_004960.3(FUS): c.13+10_13+12delGGC	deletion	Uncertain significance	rs1057518893	GRCh37	Chromosome 16, 31191558: 31191560
5	FUS	NM_004960.3(FUS): c.13+10_13+12delGGC	deletion	Uncertain significance	rs1057518893	GRCh38	Chromosome 16, 31180237: 31180239
6	TNXB	NM_019105.6(TNXB): c.6349_6352delGTCC (p.Val2117Profs)	deletion	Uncertain significance		GRCh38	Chromosome 6, 32067853: 32067856
7	TNXB	NM_019105.6(TNXB): c.6349_6352delGTCC (p.Val2117Profs)	deletion	Uncertain significance		GRCh37	Chromosome 6, 32035630: 32035633
8	TNXB	NM_019105.6(TNXB): c.5052C> A (p.Asp1684Glu)	single nucleotide variant	Uncertain significance	rs776883744	GRCh37	Chromosome 6, 32038130: 32038130
9	TNXB	NM_019105.6(TNXB): c.5052C> A (p.Asp1684Glu)	single nucleotide variant	Uncertain significance	rs776883744	GRCh38	Chromosome 6, 32070353: 32070353

Sources

Expression for Myoclonus

Search GEO for disease gene expression data for Myoclonus.

Sources

Pathways for Myoclonus

Sources

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	9.32	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

Sources for Myoclonus

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia