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

MCID: MYC026 MIFTS: 35	Myoclonus Epilepsy Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Myoclonus Epilepsy

MalaCards integrated aliases for Myoclonus Epilepsy:

Name: Myoclonus Epilepsy ⁵²

Epilepsies, Myoclonic ⁷¹

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C0014550

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Summaries for Myoclonus Epilepsy

MalaCards based summary : Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to progressive myoclonus epilepsy, lafora type and progressive myoclonus epilepsy 6, and has symptoms including myoclonus and myoclonic seizures. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). The drugs Stiripentol and Strawberry have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin, and related phenotypes are behavior/neurological and muscle

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Related Diseases for Myoclonus Epilepsy

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy 4	Progressive Myoclonus Epilepsy 10
Progressive Myoclonus Epilepsy 3	Progressive Myoclonus Epilepsy 7
Progressive Myoclonus Epilepsy 1b	Progressive Myoclonus Epilepsy 6
Progressive Myoclonus Epilepsy 9	Progressive Myoclonus Epilepsy 8
Progressive Myoclonus Epilepsy 1a	Progressive Myoclonus Epilepsy

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

(show top 50) (show all 196)

#	Related Disease	Score	Top Affiliating Genes
1	progressive myoclonus epilepsy, lafora type	34.0	NHLRC1 EPM2A
2	progressive myoclonus epilepsy 6	33.6	EPM2A CSTB
3	progressive myoclonus epilepsy 4	33.2	PRICKLE1 EPM2A CSTB
4	progressive myoclonus epilepsy 1a	33.0	EPM2A CSTB
5	progressive myoclonus epilepsy 10	32.8	NHLRC1 EPM2A CSTB
6	myoclonic epilepsy of unverricht and lundborg	32.5	EPM2A CSTB
7	unverricht-lundborg syndrome	32.2	PRICKLE1 NHLRC1 EPM2A CSTB
8	myoclonic epilepsy of lafora	31.9	NHLRC1 EPM2AIP1 EPM2A CSTB
9	epilepsy, myoclonic juvenile	31.3	NHLRC1 EPM2A CSTB
10	progressive myoclonus epilepsy	30.5	TRAPPC10 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
11	early myoclonic encephalopathy	29.9	NHLRC1 EPM2A CSTB
12	glycoproteinosis	29.7	NHLRC1 CSTB
13	glycogen storage disease iv	29.3	NHLRC1 EPM2A
14	myoclonus	29.0	PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A CSTB
15	dementia	28.7	NHLRC1 EPM2A CSTB
16	epilepsy	28.0	TRAPPC10 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
17	prickle1-related progressive myoclonus epilepsy with ataxia	12.8
18	progressive myoclonus epilepsy 7	12.7
19	progressive myoclonus epilepsy 3	12.7
20	progressive myoclonus epilepsy 9	12.6
21	progressive myoclonus epilepsy 8	12.6
22	progressive myoclonus epilepsy 1b	12.3
23	myoclonus epilepsy partial seizure	12.3
24	myoclonic epilepsy associated with ragged-red fibers	11.8
25	epilepsy, progressive myoclonic, 4, with or without renal failure	11.8
26	epilepsy, progressive myoclonic 7	11.7
27	familial adult myoclonic epilepsy	11.7
28	epilepsy, progressive myoclonic, 6	11.7
29	epilepsy, progressive myoclonic, 1b	11.6
30	epilepsy, progressive myoclonic, 8	11.6
31	epileptic encephalopathy, early infantile, 6	11.6
32	epilepsy, progressive myoclonic, 3, with or without intracellular inclusions	11.6
33	epilepsy, progressive myoclonic, 9	11.6
34	myoclonic epilepsy of infancy	11.6
35	dentatorubral-pallidoluysian atrophy	11.5
36	encephalopathy, familial, with neuroserpin inclusion bodies	11.5
37	epilepsy, progressive myoclonic, 10	11.5
38	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	11.3
39	myoclonic epilepsy, familial infantile	11.3
40	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	11.3
41	epileptic encephalopathy, early infantile, 16	11.3
42	myoclonic epilepsy in non-progressive encephalopathies	11.3
43	hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	11.2
44	ceroid lipofuscinosis, neuronal, 1	11.2
45	ramsay hunt syndrome i	11.2
46	ataxia and polyneuropathy, adult-onset	10.8
47	autosomal recessive disease	10.5
48	tremor	10.4
49	myopathy	10.4
50	neuronal ceroid lipofuscinosis	10.4

Graphical network of the top 20 diseases related to Myoclonus Epilepsy:

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Symptoms & Phenotypes for Myoclonus Epilepsy

UMLS symptoms related to Myoclonus Epilepsy:

myoclonus, myoclonic seizures

MGI Mouse Phenotypes related to Myoclonus Epilepsy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.7	CERS1 CSTB EPM2A EPM2AIP1 NHLRC1 PRICKLE1
2	muscle	MP:0005369	9.35	CSTB EPM2A EPM2AIP1 NHLRC1 PRICKLE1
3	nervous system	MP:0003631	9.1	CERS1 CSTB EPM2A NHLRC1 PRICKLE1 TRAPPC10

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Drugs & Therapeutics for Myoclonus Epilepsy

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

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Stiripentol

Approved

Phase 3

49763-96-4

Strawberry

Approved

Phase 3

Ethanol

Approved

Phase 3

64-17-5

702

tannic acid

Approved

Phase 3

1401-55-4

Benzocaine

Approved, Investigational

Phase 3

94-09-7, 1994-09-7

2337

Zonisamide

Approved, Investigational

Phase 3

68291-97-4

5734

Antibodies

Phase 3

Rho(D) Immune Globulin

Phase 3

Immunoglobulins, Intravenous

Phase 3

Immunologic Factors

Phase 3

gamma-Globulins

Phase 3

Immunoglobulins

Phase 3

Serotonin Uptake Inhibitors

Phase 3

Hormones

Phase 3

Calcium, Dietary

Phase 3

calcium channel blockers

Phase 3

Serotonin

Investigational, Nutraceutical

Phase 3

50-67-9

5202

Calcium

Nutraceutical

Phase 3

7440-70-2

271

Dopamine

Approved

Phase 2

51-61-6, 62-31-7

681

Ropinirole

Approved, Investigational

Phase 2

91374-20-8, 91374-21-9

497540 5095

Verapamil

Approved

Phase 2

52-53-9

2520

Dopamine Agents

Phase 2

Dopamine agonists

Phase 2

Antiparkinson Agents

Phase 2

Anti-Arrhythmia Agents

Phase 2

Vasodilator Agents

Phase 2

Levetiracetam

Approved

102767-28-2

441341

Insulin, Globin Zinc

insulin

Interventional clinical trials:

(show all 45)

#	Name	Status	NCT ID	Phase	Drugs
1	Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial.	Unknown status	NCT03351569	Phase 3	Intravenous immunoglobulin
2	A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome.	Completed	NCT02224703	Phase 3	GWP42003-P;Placebo Control
3	A Multicenter, 2-Cohort Trial to First Assess the Pharmacokinetic and Safety Profile of a Single Dose of ZX008 (Fenfluramine Hydrochloride) Oral Solution When Added to Standard of Care , Followed by a Randomized, Double-blind, Placebo-controlled Parallel Group Evaluation of the Efficacy, Safety, and Tolerability of ZX008 as Adjunctive Antiepileptic Therapy to Stiripentol Treatment in Children and Young Adults With Dravet Syndrome	Completed	NCT02926898	Phase 3	ZX008 - 0.2 mg/kg/day;ZX008 - 0.4 mg/kg/day;ZX008 - 20 mg/day maximum dose;Matching Placebo
4	A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome	Completed	NCT02091375	Phase 3	GWP42003-P 20 mg/kg/day Dose;Placebo control
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	A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome	Recruiting	NCT02826863	Phase 3	ZX008 - 0.8 mg/kg/day;ZX008 - 0.2 mg/kg/day;Placebo
7	An Open Label Extension Study to Investigate the Safety of Cannabidiol (GWP42003-P; CBD) in Children and Young Adults With Inadequately Controlled Dravet or Lennox-Gastaut Syndromes.	Active, not recruiting	NCT02224573	Phase 3	GWP42003-P
8	A Multicenter, Randomized, Double-blind, Parallel Group, Placebo-controlled Trial of Two Fixed Doses of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome	Active, not recruiting	NCT02682927	Phase 3	ZX008 (Fenfluramine Hydrochloride);Matching Placebo
9	An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome	Enrolling by invitation	NCT02823145	Phase 3	ZX008 (Fenfluramine Hydrochloride)
10	An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients With Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome	Enrolling by invitation	NCT03936777	Phase 3	ZX008 (Fenfluramine Hydrochloride)
11	An Exploratory, Pilot Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome: A Sub-study to the ZX008-1503 Open-Label Extension Trial	Enrolling by invitation	NCT03299842	Phase 3	ZX008 (Fenfluramine Hydrochloride)
12	Multi-site, Prospective, Open-label, Long-term, Flexible Dose, Interventional Study to Evaluate the Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome	Terminated	NCT02187809	Phase 3	Clobazam
13	A Double-blind, Randomised, Placebo-controlled, Multi-centre Study to Assess the Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy	Terminated	NCT00693017	Phase 3	Zonisamide;Placebo
14	Multi-site, Prospective, Randomised, Double-blind, Placebo-controlled, Parallel-group, Interventional Study to Evaluate the Efficacy, Safety, and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome	Withdrawn	NCT02174094	Phase 3	Clobazam;Placebo
15	A Multicenter, Randomized, Double-blind, Placebo- Controlled, Interventional Study to Assess the Safety and Efficacy of Pharmaceutical Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Subjects With Inadequately Controlled Dravet Syndrome	Withdrawn	NCT02318563	Phase 3	Cannabidiol Oral Solution;Placebo Solution
16	Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type	Unknown status	NCT00639119	Phase 2	Ropinirole
17	Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Aged 15-50: A Randomized Controlled Trial	Unknown status	NCT01450423	Phase 2
18	Verapamil as Adjunctive Seizure Therapy for Children and Young Adults With Dravet Syndrome	Completed	NCT01607073	Phase 2	Verapamil
19	A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome	Completed	NCT02091206	Phase 2	GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
20	An Open-Label Study to Investigate the Safety and Pharmacokinetics of Single Ascending Doses of Antisense Oligonucleotide STK-001 in Children and Adolescents With Dravet Syndrome	Recruiting	NCT04442295	Phase 1, Phase 2	STK-001
21	A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy	Recruiting	NCT03635073	Phase 2	TAK-935
22	An Open-Label Trial to Assess the Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Combination With Cannabidiol, as an Adjunctive Therapy in Children and Young Adults With Dravet Syndrome or Lennox-Gastaut Syndrome	Active, not recruiting	NCT03467113	Phase 1, Phase 2	ZX008 0.2 and 0.8 mg/kg/day
23	A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or Dravet Syndrome	Active, not recruiting	NCT02758626	Phase 2	ataluren;Placebo
24	A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies	Active, not recruiting	NCT03650452	Phase 2	TAK-935;Placebo
25	The Effects of Cannabidiol (CBD) on Electrical and Autonomic Cardiac Function in Children	Terminated	NCT02815540	Phase 1, Phase 2	Cannabidiol
26	A Phase I, Placebo-Controlled, Double-Blind, 2-Period Study to Assess Safety and Pharmacokinetics of Escalating Single and Multiple Oral Doses of EPX-100 in Fasting Healthy Subjects and Following a High-Fat Meal	Completed	NCT04069689	Phase 1	EPX-100 (Clemizole Hydrochloride);Placebos
27	Treatment Plan to Provide Expanded Access to Stiripentol for Patients With Dravet Syndrome	Approved for marketing	NCT01983722		Stiripentol
28	Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population	Completed	NCT02229032
29	Cardiac Arrhythmias in Dravet Syndrome: an Observational, International, Multicentre Study	Completed	NCT02415686
30	Effects of Levetiracetam on Cortical Excitability in Humans	Completed	NCT00006191
31	A Trial of Ketogenic Diet in Lafora Disease	Completed	NCT00007124
32	Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome	Recruiting	NCT02896608
33	Genetics of Epilepsy and Related Disorders	Recruiting	NCT01858285
34	Biology of Juvenile Myoclonic Epilepsy	Recruiting	NCT03400371
35	Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease	Active, not recruiting	NCT03876522
36	Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol	Active, not recruiting	NCT01331642
37	Treatment of Gait Disorders in Children With Dravet Syndrome	Active, not recruiting	NCT03857451
38	Treatment of Dravet Syndrome With Fenfluramine (Expanded Access Protocol)	Available	NCT04437004		Fenfluramine
39	ZX008 Expanded Access Protocol - Dravet Syndrome Treatment Plan	Available	NCT03780127		Fenfluramine Hydrochloride
40	The Becoming of Children With Doose Syndrome	Not yet recruiting	NCT04048213
41	Compassionate Use of Stiripentol in Intractable Epilepsy Due to Dravet Syndrome	No longer available	NCT01533506		stiripentol
42	Compassionate Use of Stiripentol in Dravet Syndrome	No longer available	NCT01835314		Stiripentol
43	Expanded Access Use of Stiripentol in Participants With Dravet Syndrome or Epileptic Encephalopathies Associated With Sodium Channel Mutations	No longer available	NCT02239276		Stiripentol
44	Turmeric as Treatment in Epilepsy	Withdrawn	NCT03254680
45	The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy	Withdrawn	NCT02910297

Search NIH Clinical Center for Myoclonus Epilepsy

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Clonazepam

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Genetic Tests for Myoclonus Epilepsy

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Anatomical Context for Myoclonus Epilepsy

MalaCards organs/tissues related to Myoclonus Epilepsy:

⁴⁰

Brain, Cortex, Skin, Liver, Eye, Skeletal Muscle, Pituitary

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Publications for Myoclonus Epilepsy

Articles related to Myoclonus Epilepsy:

(show top 50) (show all 921)

#	Title	Authors	PMID	Year
1	FDG-PET assessment and metabolic patterns in Lafora disease. ⁶¹	Muccioli L...Bisulli F	31858178	2020
2	Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy. ⁶¹	Di Matteo F...Cappello S	32378798	2020
3	Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. ⁶¹	Han X...Sui R	32453490	2020
4	A high prevalence of arterial hypertension in patients with mitochondrial diseases. ⁶¹	Chong-Nguyen C...Wahbi K	31762033	2020
5	Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene ⁶¹	Illes A...Molnar MJ	32364361	2020
6	Perampanel for nonepileptic myoclonus in Angelman syndrome. ⁶¹	Kawano O...Shiraishi H	32164978	2020
7	Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. ⁶¹	Panneman DM...Rodenburg RJ	31957011	2020
8	A novel compound heterozygous EPM2A mutation in a Chinese boy with Lafora disease. ⁶¹	Fu Y...Long H	32342326	2020
9	Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. ⁶¹	Lahuerta M...Sanz P	31808062	2020
10	A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. ⁶¹	Polet SS...de Koning TJ	32105965	2020
11	Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. ⁶¹	Sanchez-Martin P...Sanz P	31758957	2020
12	High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. ⁶¹	Oguri M...Maegaki Y	31561936	2020
13	Lafora Disease: Report of a Rare Entity. ⁶¹	Al Mufargi Y...Al Asmi A	32140352	2020
14	PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists. ⁶¹	Kholi H...Vercueil L	31760202	2020
15	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	Hypponen J...Kalviainen R	32035366	2020
16	Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy. ⁶¹	Iijima M...Kitagawa K	31799456	2019
17	Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. ⁶¹	Mastrangelo M...Leuzzi V	30500434	2019
18	North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia. ⁶¹	Lambrechts RA...Sibon OCM	31682953	2019
19	Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy. ⁶¹	Jepson JEC...Krishnakumar SS	30954670	2019
20	[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. ⁶¹	Han XD...Deng J	31665838	2019
21	The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. ⁶¹	Orsini A...Striano P	31476531	2019
22	An Italian multicentre study of perampanel in progressive myoclonus epilepsies. ⁶¹	Canafoglia L...Franceschetti S	31446282	2019
23	Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy. ⁶¹	Johannessen Landmark C...Johannessen SI	31195184	2019
24	Phenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation. ⁶¹	Miyaue N...Nomoto M	31178486	2019
25	Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. ⁶¹	Berrechid AG...Gouider R	31368437	2019
26	Pharmacotherapeutic management of epilepsy in MERRF syndrome. ⁶¹	Finsterer J	31063406	2019
27	KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. ⁶¹	Park J...Haack TB	31353862	2019
28	A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. ⁶¹	Algahtani H...Naseer MI	31035234	2019
29	Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. ⁶¹	Cameron JM...Berkovic SF	31353855	2019
30	Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. ⁶¹	Miyahara H...Yoshida M	30972844	2019
31	Treatment with metformin in twelve patients with Lafora disease. ⁶¹	Bisulli F...Tinuper P	31227012	2019
32	Sudden unexpected death with rare compound heterozygous variants in PRICKLE1. ⁶¹	Hata Y...Nishida N	30564977	2019
33	Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases. ⁶¹	Mizuguchi T...Miyatake S	30559482	2019
34	Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation. ⁶¹	Canafoglia L...DiFrancesco JC	30660924	2019
35	Berardinelli-Seip syndrome and progressive myoclonus epilepsy. ⁶¹	Serino D...Fioretto F	30767895	2019
36	Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. ⁶¹	Berkovic SF...Carpenter S	30561534	2019
37	Autistic features in Unverricht-Lundborg disease. ⁶¹	Tandon R...Pradhan S	31463470	2019
38	Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience. ⁶¹	Begic E...Dobraca A	30598679	2019
39	[Lafora disease: a review of the literature]. ⁶¹	Desdentado L...Tirapu-Ustarroz J	30638256	2019
40	Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy. ⁶¹	Martin S...Klein KM	31551911	2019
41	Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ⁶¹	Tonin R...Morrone A	30382391	2019
42	Possible Mechanisms by which Stefin B could Regulate Proteostasis and Oxidative Stress. ⁶¹	Zerovnik E	30669344	2019
43	Sleep is associated with reduction of epileptiform discharges in benign adult familial myoclonus epilepsy. ⁶¹	Hitomi T...Ikeda A	30591883	2019
44	Lafora Disease: A Review of Molecular Mechanisms and Pathology. ⁶¹	Verhalen B...Minassian BA	30336494	2018
45	Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation. ⁶¹	Miyaue N...Nomoto M	29984755	2018
46	PRICKLE1-related early onset epileptic encephalopathy. ⁶¹	Mastrangelo M...Leuzzi V	30345727	2018
47	Lafora disease - from pathogenesis to treatment strategies. ⁶¹	Nitschke F...Minassian BA	30143794	2018
48	Nationwide survey in Japan endorsed diagnostic criteria of benign adult familial myoclonus epilepsy. ⁶¹	Kobayashi K...Ikeda A	30053653	2018
49	RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis. ⁶¹	Richter U...Battersby BJ	30262910	2018
50	Biochemical and clinical aspects of glycogen storage diseases. ⁶¹	Ellingwood SS...Cheng A	29875163	2018

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Genes for Myoclonus Epilepsy

Genes related to Myoclonus Epilepsy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PRICKLE1	Prickle Planar Cell Polarity Protein 1	Protein Coding	29.26	GeneCards inferred via : Publications Summaries Variants (show sections)
2	LOC109029533	Cystatin B Upstream Repeat Instability Region	Biological Region	25.71	GeneCards inferred via : Publications Gene name Summaries (show sections)
3	EPM2A	EPM2A Glucan Phosphatase, Laforin	Protein Coding	17.03	GeneCards inferred via : Publications Summaries (show sections)
4	EPM2AIP1	EPM2A Interacting Protein 1	Protein Coding	16.13	GeneCards inferred via : Publications Summaries (show sections)
5	CERS1	Ceramide Synthase 1	Protein Coding	15.86	GeneCards inferred via : Publications Summaries (show sections)
6	TRAPPC10	Trafficking Protein Particle Complex 10	Protein Coding	15.86	GeneCards inferred via : Publications Summaries (show sections)
7	CSTB	Cystatin B	Protein Coding	7.93	GeneCards inferred via : Publications (show sections)
8	NHLRC1	NHL Repeat Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	7.7	GeneCards inferred via : Publications (show sections)

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Variations for Myoclonus Epilepsy

Copy number variations for Myoclonus Epilepsy from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	134789	2	107500000	169500000	Copy number	SCN1A	myoclonus epilepsy

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Expression for Myoclonus Epilepsy

Search GEO for disease gene expression data for Myoclonus Epilepsy.

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Pathways for Myoclonus Epilepsy

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GO Terms for Myoclonus Epilepsy

Cellular components related to Myoclonus Epilepsy 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 Epilepsy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein ubiquitination	GO:0031398	9.43	PRICKLE1 NHLRC1
2	regulation of protein phosphorylation	GO:0001932	9.4	NHLRC1 EPM2A
3	glycogen metabolic process	GO:0005977	9.37	NHLRC1 EPM2A
4	regulation of protein kinase activity	GO:0045859	9.32	NHLRC1 EPM2A
5	regulation of protein localization to plasma membrane	GO:1903076	9.26	NHLRC1 EPM2A
6	glycogen biosynthetic process	GO:0005978	9.16	NHLRC1 EPM2A
7	regulation of protein ubiquitination	GO:0031396	8.96	NHLRC1 EPM2A
8	cellular macromolecule metabolic process	GO:0044260	8.62	NHLRC1 EPM2A

Sources

Sources for Myoclonus Epilepsy

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Myoclonus Epilepsy

Aliases & Classifications for Myoclonus Epilepsy

MalaCards integrated aliases for Myoclonus Epilepsy:

Classifications:

External Ids:

Summaries for Myoclonus Epilepsy

Related Diseases for Myoclonus Epilepsy

Diseases in the Myoclonus Epilepsy family:

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

Graphical network of the top 20 diseases related to Myoclonus Epilepsy:

Symptoms & Phenotypes for Myoclonus Epilepsy

UMLS symptoms related to Myoclonus Epilepsy:

MGI Mouse Phenotypes related to Myoclonus Epilepsy:

Drugs & Therapeutics for Myoclonus Epilepsy

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

Interventional clinical trials:

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Genetic Tests for Myoclonus Epilepsy

Anatomical Context for Myoclonus Epilepsy

MalaCards organs/tissues related to Myoclonus Epilepsy:

Publications for Myoclonus Epilepsy

Articles related to Myoclonus Epilepsy:

Genes for Myoclonus Epilepsy

Genes related to Myoclonus Epilepsy (0 elite genes):

Variations for Myoclonus Epilepsy

Copy number variations for Myoclonus Epilepsy from CNVD:

Expression for Myoclonus Epilepsy

Pathways for Myoclonus Epilepsy

GO Terms for Myoclonus Epilepsy

Cellular components related to Myoclonus Epilepsy according to GeneCards Suite gene sharing:

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

Sources for Myoclonus Epilepsy

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :