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

MCID: MYC033 MIFTS: 46	Myoclonus Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Myoclonus

MalaCards integrated aliases for Myoclonus:

Name: Myoclonus ⁵² ⁷⁵ ²⁸ ⁵ ³¹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Extrapyramidal and movement disorders

Other extrapyramidal and movement disorders

Myoclonus

External Ids:

ICD10 ³¹ G25.3

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Summaries for Myoclonus

NINDS: ⁵² Myoclonus refers to a sudden, involuntary (unintended) jerking of a muscle or group of muscles. It is not in itself a disease. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. There are several forms of myoclonus. Myoclonic jerks may occur: either in sequence, in a pattern of movement or without pattern infrequently or many times per minute in response to an external event or when a person tries to make a movement. Examples of myoclonus can include hiccups, the jerks or "sleep starts" that some people experience while drifting off to sleep, or persistent, shock-like contractions in a group of muscles. Myoclonic jerks may occur by themselves or be one of several symptoms associated with nervous system disorders such as epilepsy and multiple sclerosis. Myoclonus may be seen in conjunction with infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug intoxication, or other disorders.

MalaCards based summary: Myoclonus is related to progressive myoclonus epilepsy 7 and progressive myoclonus epilepsy 10. An important gene associated with Myoclonus is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways is Degradation pathway of sphingolipids, including diseases. The drugs Rocuronium and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

Wikipedia: ⁷⁵ Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle or a group of... more...

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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 1074)

#	Related Disease	Score	Top Affiliating Genes
1	progressive myoclonus epilepsy 7	32.4	PRICKLE1 CSTB
2	progressive myoclonus epilepsy 10	32.3	NHLRC1 EPM2A
3	spinal muscular atrophy with progressive myoclonic epilepsy	32.3	KCTD7 CERS1
4	glycoproteinosis	32.2	NHLRC1 NEU1 EPM2A CSTB
5	myoclonic epilepsy of unverricht and lundborg	32.2	SCARB2 PRICKLE1 LOC109029533 EPM2A CSTB
6	unverricht-lundborg syndrome	32.1	PRICKLE1 NHLRC1 LOC109029533 KCTD7 EPM2A CSTB
7	myoclonic epilepsy of lafora	32.1	NHLRC1 EPM2AIP1 EPM2A CSTB
8	progressive myoclonus epilepsy 6	32.0	PRICKLE1 NHLRC1 KCTD7 EPM2A CSTB CERS1
9	progressive myoclonus epilepsy 4	31.7	SCARB2 PRICKLE1 NHLRC1 KCTD7 EPM2A CSTB
10	progressive myoclonus epilepsy 1a	31.6	PRICKLE1 KCTD7 CSTB
11	progressive myoclonus epilepsy 1b	31.6	PRICKLE1 KCTD7 CSTB
12	epilepsy, myoclonic juvenile	31.1	SLC2A1 SCN8A NHLRC1 EPM2A CSTB
13	myoclonus epilepsy	31.0	SLC7A6OS SCARB2 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1
14	movement disease	30.5	SLC2A1 SGCE DRD2
15	neuronal ceroid lipofuscinosis	30.2	NHLRC1 KCTD7 CSTB
16	progressive myoclonus epilepsy	30.2	SLC7A6OS SCN8A SCARB2 PRICKLE1 NHLRC1 LOC109029533
17	early myoclonic encephalopathy	30.2	SLC2A1 SCN8A PRICKLE1 NHLRC1 KCTD7 EPM2A
18	aceruloplasminemia	30.2	SLC2A1 SCN8A AFG3L2
19	dementia	30.0	NHLRC1 EPM2A DRD2 CSTB
20	dystonia	30.0	SLC2A1 SGCE KMT2B DRD2 CSTB AFG3L2
21	dystonia, dopa-responsive	29.8	SLC2A1 SGCE
22	choreatic disease	29.8	SLC2A1 SGCE DRD2 CSTB AFG3L2
23	childhood absence epilepsy	29.7	SLC2A1 SCN8A NHLRC1
24	epilepsy with generalized tonic-clonic seizures	29.5	SCN8A CSTB
25	episodic ataxia	29.2	SLC2A1 SCN8A AFG3L2
26	benign epilepsy with centrotemporal spikes	29.1	SLC2A1 SCN8A SCARB2 PRICKLE1 KCTD7 EPM2A
27	epilepsy	28.9	SLC7A6OS SLC2A1 SGCE SCN8A SCARB2 PRICKLE1
28	dystonia 11, myoclonic	11.7
29	otitis media	11.7
30	epilepsy, progressive myoclonic, 4, with or without renal failure	11.7
31	myoclonus, familial, 1	11.5
32	epilepsy, progressive myoclonic, 1b	11.5
33	progressive myoclonus epilepsy, lafora type	11.5
34	myoclonic epilepsy associated with ragged-red fibers	11.4
35	neuraminidase deficiency	11.4
36	myoclonus, familial, 2	11.4
37	familial adult myoclonic epilepsy	11.4
38	myoclonus, cerebellar ataxia, and deafness	11.4
39	myoclonus, intractable, neonatal	11.3
40	myoclonic cerebellar dyssynergia	11.3
41	epilepsy, progressive myoclonic 7	11.3
42	progressive encephalomyelitis with rigidity and myoclonus	11.3
43	progressive myoclonus epilepsy 8	11.3
44	epilepsy, familial adult myoclonic, 2	11.3
45	epilepsy, progressive myoclonic, 8	11.3
46	immunodeficiency 23	11.3
47	progressive myoclonus epilepsy 3	11.3
48	progressive myoclonus epilepsy 9	11.2
49	epilepsy, progressive myoclonic, 9	11.2
50	early-onset progressive encephalopathy with migrant continuous myoclonus	11.2

Graphical network of the top 20 diseases related to Myoclonus:

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Symptoms & Phenotypes for Myoclonus

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

²⁵ (show all 19)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.17	AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1
2	no effect	GR00402-S-2	10.17	CERS1 CSTB DRD2 EPM2A EPM2AIP1 KCTD7
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-104	9.89	DRD2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-112	9.89	SLC2A1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.89	SGCE
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.89	SLC2A1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.89	SGCE
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-184	9.89	DRD2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.89	DRD2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	9.89	SGCE
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.89	SGCE
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-41	9.89	SLC2A1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.89	SLC2A1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	9.89	SGCE
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	9.89	DRD2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-58	9.89	SLC2A1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	9.89	SGCE
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.89	DRD2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.89	DRD2

MGI Mouse Phenotypes related to Myoclonus:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.31	AFG3L2 CERS1 CSTB DRD2 EPM2A KMT2B
2	muscle	MP:0005369	10.14	AFG3L2 CSTB DRD2 EPM2A EPM2AIP1 NEU1
3	homeostasis/metabolism	MP:0005376	10.1	CERS1 CSTB DRD2 EPM2A EPM2AIP1 KCTD7
4	growth/size/body region	MP:0005378	10.06	AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1
5	liver/biliary system	MP:0005370	9.91	AFG3L2 DRD2 EPM2A EPM2AIP1 KMT2B NEU1
6	adipose tissue	MP:0005375	9.87	AFG3L2 DRD2 EPM2A KCTD7 KMT2B SCARB2
7	cellular	MP:0005384	9.8	AFG3L2 CERS1 CSTB DRD2 EPM2A KMT2B
8	behavior/neurological	MP:0005386	9.5	AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1

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Drugs & Therapeutics for Myoclonus

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

(show top 50) (show all 110)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Sodium citrate

Approved, Investigational

Phase 4

68-04-2

23431961

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

Cisatracurium

Approved, Investigational

Phase 4

96946-41-7

62887

Atracurium

Approved, Experimental, Investigational

Phase 4

64228-79-1

47319

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Remifentanil

Approved

Phase 4

132875-61-7

60815

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Etomidate

Approved

Phase 4

33125-97-2

667484

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Iron

Approved

Phase 4

7439-89-6

29936

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

Neuromuscular Nondepolarizing Agents

Phase 4

Neuromuscular Blocking Agents

Phase 4

Pharmaceutical Solutions

Phase 4

Analgesics, Opioid

Phase 4

Analgesics

Phase 4

Citrate

Phase 4

Narcotics

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Adrenergic Agents

Phase 4

Analgesics, Non-Narcotic

Phase 4

Cholinergic Antagonists

Phase 4

Cholinergic Agents

Phase 4

Neurotransmitter Agents

Phase 4

Anti-Arrhythmia Agents

Phase 4

Sodium Channel Blockers

Phase 4

Anti-Anxiety Agents

Phase 4

Psychotropic Drugs

Phase 4

Anesthetics, Local

Phase 4

Anesthetics, Intravenous

Phase 4

Anesthetics, General

Phase 4

Anesthetics

Phase 4

Hypnotics and Sedatives

Phase 4

GABA Modulators

Phase 4

Diuretics, Potassium Sparing

Phase 4

Iron Supplement

Phase 4

Zonisamide

Approved, Investigational

Phase 3

68291-97-4

5734

Prednisone

Approved, Vet_approved

Phase 3

53-03-2

5865

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 3

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 3

50-02-2

3003 5743

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Calcium, Dietary

Phase 3

Anticonvulsants

Phase 3

calcium channel blockers

Phase 3

Antirheumatic Agents

Phase 3

Immunologic Factors

Phase 3

Antineoplastic Agents, Hormonal

Phase 3

Interventional clinical trials:

(show all 22)

#	Name	Status	NCT ID	Phase	Drugs
1	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
2	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
3	Effect of Pretreatment of Lignocaine Versus Midazolam in the Prevention of Etomidate Induced Myoclonus	Completed	NCT04921046	Phase 4	lignocaine;Midazolam 1 milligram Prefilled Syringe
4	Optimum Frequency and Timing of Oral Iron Administration for Childhood Restless Leg Syndrome/Periodic Limb Movement Disorder	Enrolling by invitation	NCT04610827	Phase 4	Ferrous sulfate
5	Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study	Completed	NCT01806805	Phase 3	zonegran;placebo
6	Multinational European Trial for Children With the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome	Active, not recruiting	NCT01868269	Phase 3	Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
7	A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone	Active, not recruiting	NCT00033293	Phase 3	cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
8	A Phase I Clinical Trial of Rituximab for Pediatric Opsoclonus-Myoclonus Syndrome	Completed	NCT00244361	Phase 1, Phase 2	rituximab
9	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
10	Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma	Terminated	NCT00202930	Phase 2	anti-CD20 (Rituximab)
11	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	Terminated	NCT02282514	Phase 1, Phase 2	Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
12	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
13	Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation	Completed	NCT00001663	Phase 1
14	Periodic Limb Movement Syndrome in Patients With Cerebral Small Vessel Disease: a Clinical and Neuropsychological Study.	Unknown status	NCT04569643
15	Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS)	Completed	NCT00806182
16	Electrophysiological Characteristics and Anatomical Differentiation of Epileptic and Non-epileptic Myoclonus.	Completed	NCT04235452
17	Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases	Completed	NCT00001667
18	Consequences of Post Stroke Polysomnographic Abnormalities on Functionnal Recovery and Survival After an Ischemic Stroke	Completed	NCT04816136
19	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
20	Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia	Recruiting	NCT05317390
21	Periodic Leg Movement's Diagnosis in Spinal Cord Injury: Actigraphy as an Alternative for Polysomnography?	Recruiting	NCT04618978
22	Examining the Link Between Clinical and Physiological Sleep Data and Health-related Outcomes	Active, not recruiting	NCT03383354

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 ²⁸

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Anatomical Context for Myoclonus

Organs/tissues related to Myoclonus:

MalaCards : Spinal Cord, Kidney, Brain, Liver, Eye, Globus Pallidus, Cortex

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Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 8351)

#	Title	Authors	PMID	Year
1	ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. ⁵	Caporali L...Taroni F	32219868	2020
2	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
3	Creutzfeldt-Jakob disease after COVID-19: infection-induced prion protein misfolding? A case report. ⁶²	Bernardini A...Valente M	35786166	2022
4	A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom. ⁶²	Nagata T...Shigeta M	34965177	2022
5	Childhood Neurologic Conditions: Movement Disorders. ⁶²	Youssef P	36459665	2022
6	Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review. ⁶²	Yang X...Jiang L	36417830	2022
7	Is the pathology of posterior cortical atrophy clinically predictable? ⁶²	Cipriano L...Coppola C	35659868	2022
8	Abdominal myoclonus in a patient implanted with spinal cord stimulator. ⁶²	Simonetta C...Schirinzi T	35969286	2022
9	Central nervous system adverse events of ceftazidime/avibactam: A retrospective study using Food and Drug Administration Adverse Event Reporting System. ⁶²	Guo X...Cui X	36369970	2022
10	A Case of Multidrug-Resistant Lance-Adams Syndrome Successfully Treated With Phenobarbital. ⁶²	Yeniay Sut N...Teber S	36367330	2022
11	Comparison of some cytokines, acute phase proteins and citrulline levels in healthy and canine distemper infected dogs. ⁶²	Dik I...Gulersoy E	36418074	2022
12	Quantitative artifact reduction and pharmacologic paralysis improve detection of EEG epileptiform activity in critically ill patients. ⁶²	Kulick-Soper CV...Conrad EC	36462473	2022
13	Withdrawal of life-sustaining therapy in intensive care unit patients following out-of-hospital cardiac arrest: An Australian metropolitan ICU experience. ⁶²	Devanand NA...Edwards S	35810678	2022
14	COVID-19 Continuous-EEG Case Series: A Descriptive Study. ⁶²	Zafar S...Afra P	33606430	2022
15	Ataxia-Myoclonus Syndrome in Patients with SARS-CoV-2 Infection. ⁶²	Guerra AF...Pietrangelo A	34645540	2022
16	[A case of idiopathic propriospinal myoclonus accompanied by giant somatosensory evoked potential]. ⁶²	Hayashi S...Ohi T	36288962	2022
17	Paraneoplastic neuronal intermediate filament presenting as encephalopathy and myoclonus: a case report and literature review. ⁶²	Rettenmaier L...Groth CL	35604468	2022
18	Myoclonus status revealing COVID 19 infection. ⁶²	Ben Mohamed D...Ben Sassi S	36446232	2022
19	Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs. ⁶²	Lucchino V...Parrotta EI	36359887	2022
20	A KCNC1-related neurological disorder due to gain of Kv3.1 function. ⁶²	Clatot J...Goldberg EM	36419348	2022
21	Short- and long-interval intracortical inhibition in EPM1 is related to genotype. ⁶²	Silvennoinen K...Kalviainen R	36398398	2022
22	Clinical features and outcomes of opsoclonus myoclonus ataxia syndrome. ⁶²	Yildirim M...Anlar B	36155293	2022
23	Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. ⁶²	Francois-Heude MC...Roubertie A	36200804	2022
24	Creutzfeldt-Jakob Disease: A Case Report and Literature Review for Understanding the Big Picture. ⁶²	Barnwal S...Shariff SY	36398040	2022
25	Clinical Correlates of Cerebrospinal Fluid 14-3-3 Protein in Non-Prion Rapid Progressive Dementia. ⁶²	Kong Y...Zhang J	36404548	2022
26	Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report. ⁶²	Wu Q...Zhang Y	36274329	2022
27	Diagnostic challenges of functional neurological disorders after covid-19 disease or vaccination: case series and review of the literature. ⁶²	Albu S...Kumru H	36413270	2022
28	Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study. ⁶²	Liu X...Zheng L	35671570	2022
29	Opsoclonus-myoclonus syndrome associated with neuroblastoma: Insights into antitumor immunity. ⁶²	Du H...Cai W	36094353	2022
30	Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. ⁶²	Cantarin-Extremera V...Gonzalez-Gutierrez-Solana L	36396095	2022
31	SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy. ⁶²	Cencini F...Scelzo E	35789031	2022
32	Comparison of mediastinal and non-mediastinal neuroblastoma and ganglioneuroblastoma associated with opsoclonus-myoclonus syndrome: a systematic review and meta-analysis. ⁶²	Xie S...Yao W	36388023	2022
33	Opsoclonus-myoclonus paraneoplastic syndrome in nasopharyngeal carcinoma. ⁶²	Stewart KE...Yeo JCL	36288826	2022
34	Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia. ⁶²	Imbriani P...Pisani A	34217152	2022
35	Myoclonus and tremor in chronic inflammatory demyelinating polyneuropathy: a multichannel electromyography analysis. ⁶²	Cetinkaya Tezer D...Gunduz A	35750953	2022
36	Reading Epilepsy and Language Processing: A Proposed Role for Semantic Salience. ⁶²	Li W...Seyal M	36308758	2022
37	Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. ⁶²	Sperandeo A...Peall K	36204995	2022
38	Lafora disease: a case report. ⁶²	Zeka N...Maxharaj J	36192771	2022
39	DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. ⁶²	Elsharkawi I...Shinawi M	36214423	2022
40	Altered cerebellar-motor loop in benign adult familial myoclonic epilepsy type 1: The structural basis of cortical tremor. ⁶²	Wang G...Long L	36196770	2022
41	Prognostic factors for functional recovery in children with moderate to severe acute disseminated encephalomyelitis. ⁶²	Chen LW...Chang YC	35878513	2022
42	Cefepime-induced neurotoxicity: systematic review. ⁶²	Maan G...Nishimura Y	35971666	2022
43	Laryngeal, Pharyngeal and Respiratory Involvement in Palatal Tremor. ⁶²	Din-Lovinescu C...Blitzer A	35616181	2022
44	Neurological pupil index and its association with other prognostic tools after cardiac arrest: A post hoc analysis. ⁶²	Peluso L...Taccone FS	35914656	2022
45	Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders presenting with Dystonia: Current Practice illustrated by Two Cases. ⁶²	Garofalo M...van de Pol LA	36223877	2022
46	Subcortical generalized myoclonus as a presenting symptom of quetiapine overdose. ⁶²	Fioravanti V...Valzania F	35641732	2022
47	Post-COVID-19 Myoclonus-Ataxia Syndrome Responsive to Intravenous Immunoglobulins. ⁶²	Godani M...Lanza G	36118515	2022
48	Posthypoxic Segmental Spinal "Flutter"-Like Myoclonus. ⁶²	Maramattom BV	36352643	2022
49	Etomidate-induced myoclonus correlates with the dysfunction of astrocytes and glutamate transporters in the neocortex of Sprague-Dawley rats. ⁶²	Feng Y...Zhang WS	36111923	2022
50	A Case of Lance Adams Syndrome in a Patient with Attempted Hanging. ⁶²	Subramanian M...Mohan K	36213707	2022

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Genes for Myoclonus

Genes related to Myoclonus (4 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	407.09	Pathogenic ⁵ GeneCards inferred via : Publications (show sections)	32219868
2	KMT2B	Lysine Methyltransferase 2B	Protein Coding	400	Pathogenic ⁵	32581362
3	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	400	Pathogenic ⁵
4	TCF20	Transcription Factor 20	Protein Coding	400	Pathogenic ⁵
5	EPM2A	EPM2A Glucan Phosphatase, Laforin	Protein Coding	36.15	GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
6	SGCE	Sarcoglycan Epsilon	Protein Coding	28.71	GeneCards inferred via : Disorders Publications Summaries (show sections)
7	NHLRC1	NHL Repeat Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	26.05	GeneCards inferred via : Disorders Publications Gene name (show sections)
8	NEU1	Neuraminidase 1	Protein Coding	25.81	GeneCards inferred via : Disorders Publications Summaries (show sections)
9	SCARB2	Scavenger Receptor Class B Member 2	Protein Coding	25.61	GeneCards inferred via : Disorders Publications Summaries (show sections)
10	LOC109029533	Cystatin B Upstream Repeat Instability Region	Functional Element	25.13	GeneCards inferred via : Publications Gene name Summaries (show sections)
11	PRICKLE1	Prickle Planar Cell Polarity Protein 1	Protein Coding	25.05	GeneCards inferred via : Disorders Publications Summaries (show sections)
12	CERS1	Ceramide Synthase 1	Protein Coding	24.83	GeneCards inferred via : Disorders Publications Summaries (show sections)
13	SLC7A6OS	Solute Carrier Family 7 Member 6 Opposite Strand	Protein Coding	24.69	GeneCards inferred via : Disorders Publications Summaries (show sections)
14	NOVA1	NOVA Alternative Splicing Regulator 1	Protein Coding	24.23	GeneCards inferred via : Publications Proteins Functions (show sections)
15	CSTB	Cystatin B	Protein Coding	17.45	GeneCards inferred via : Disorders Publications (show sections)
16	DRD2	Dopamine Receptor D2	Protein Coding	17.17	GeneCards inferred via : Publications Summaries (show sections)
17	KCTD7	Potassium Channel Tetramerization Domain Containing 7	Protein Coding	16.68	GeneCards inferred via : Disorders Publications (show sections)
18	NOL3	Nucleolar Protein 3	Protein Coding	16.16	GeneCards inferred via : Disorders Publications (show sections)
19	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	16.04	GeneCards inferred via : Disorders Publications (show sections)
20	EPM2AIP1	EPM2A Interacting Protein 1	Protein Coding	15.94	GeneCards inferred via : Publications Summaries (show sections)

Sources

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SLC2A1	NM_006516.4(SLC2A1):c.470dup (p.Thr158fs)	DUP	Pathogenic	373993	rs1057518821	GRCh37: 1:43396342-43396343 GRCh38: 1:42930671-42930672
2	KMT2B	NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs)	DEL	Pathogenic	813003	rs1599677213	GRCh37: 19:36214713-36214719 GRCh38: 19:35723812-35723818
3	TCF20	NM_001378418.1(TCF20):c.2594C>G (p.Ser865Ter)	SNV	Pathogenic	590778	rs1569149539	GRCh37: 22:42608718-42608718 GRCh38: 22:42212712-42212712
4	AFG3L2	NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	SNV	Pathogenic	973107	rs912546325	GRCh37: 18:12351346-12351346 GRCh38: 18:12351347-12351347
5	FUS	NM_004960.4(FUS):c.13+11_13+13del	DEL	Uncertain Significance	374092	rs1057518893	GRCh37: 16:31191558-31191560 GRCh38: 16:31180237-31180239
6	TNXB	NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)	SNV	Uncertain Significance	523525	rs776883744	GRCh37: 6:32038130-32038130 GRCh38: 6:32070353-32070353
7	TNXB	NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)	DEL	Uncertain Significance	523526	rs754439905	GRCh37: 6:32035630-32035633 GRCh38: 6:32067853-32067856
8	TBC1D24	NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)	SNV	Uncertain Significance	583333	rs761934676	GRCh37: 16:2547069-2547069 GRCh38: 16:2497068-2497068
9	SCN2A	NM_001040142.2(SCN2A):c.556T>C (p.Phe186Leu)	SNV	Likely Benign	1696409		GRCh37: 2:166165255-166165255 GRCh38: 2:165308745-165308745