MCID: ERL001
MIFTS: 53

Early Myoclonic Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early Myoclonic Encephalopathy

MalaCards integrated aliases for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 12 60 38 30 6 15 74
Myoclonic Epilepsy 12 77 6 17
Epilepsies, Myoclonic 45 74
Myoclonic Seizure 12 56
Early Myoclonic Encephalopathy with Suppression-Bursts 60
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12

Characteristics:

Orphanet epidemiological data:

60
early myoclonic encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:308
KEGG 38 H01819
MeSH 45 D004831
ICD10 via Orphanet 35 G40.4
UMLS via Orphanet 75 C0270855
Orphanet 60 ORPHA1935

Summaries for Early Myoclonic Encephalopathy

MalaCards based summary : Early Myoclonic Encephalopathy, also known as myoclonic epilepsy, is related to myoclonic epilepsy of unverricht and lundborg and myoclonic epilepsy of infancy, and has symptoms including myoclonus, muscle spasticity and myoclonic seizures. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22). The drugs Levetiracetam and Brivaracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are generalized myoclonic seizures and myoclonus

Wikipedia : 77 Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks... more...

Related Diseases for Early Myoclonic Encephalopathy

Diseases related to Early Myoclonic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 34.1 CSTB EPM2A
2 myoclonic epilepsy of infancy 33.8 GABRG2 SCN1A
3 epilepsy, idiopathic generalized 10 33.5 CHRNA4 CSTB GABRG2 SCN1A
4 epileptic encephalopathy, early infantile, 6 32.6 CDKL5 GABRG2 SCN1A SCN1B SLC25A22 SNRPE
5 generalized epilepsy with febrile seizures plus 32.1 GABRG2 SCN1A SCN1B
6 epilepsy, idiopathic generalized 31.8 CHRNA4 GABRG2 SCN1A SCN1B
7 generalized epilepsy with febrile seizures plus, type 1 31.8 SCN1A SCN1B
8 myoclonus epilepsy 31.8 CSTB EPM2A
9 encephalopathy 30.7 ARX CDKL5 MT-ND5 SCN1A SLC25A22
10 childhood absence epilepsy 30.3 CHRNA4 GABRG2 SCN1B
11 febrile seizures 30.0 CHRNA4 GABRG2 SCN1A SCN1B
12 early infantile epileptic encephalopathy 29.9 ARX CDKL5 SCN1A SIK1 SLC25A22
13 focal epilepsy 29.8 CDKL5 CHRNA4 GABRG2 SCN1A
14 west syndrome 29.8 ARX CDKL5 SCN1A SIK1
15 lennox-gastaut syndrome 29.7 GABRG2 SCN1A SNRPE
16 benign epilepsy with centrotemporal spikes 29.6 CSTB EPM2A GABRG2 SCN1B
17 epilepsy 28.2 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
18 spinal muscular atrophy with progressive myoclonic epilepsy 12.7
19 myoclonic epilepsy associated with ragged-red fibers 12.7
20 myoclonic epilepsy of lafora 12.7
21 myoclonic epilepsy, familial infantile 12.6
22 myoclonic epilepsy myopathy sensory ataxia 12.4
23 benign adult familial myoclonic epilepsy 12.4
24 myoclonic epilepsy, juvenile 4 12.3
25 epilepsy, myoclonic juvenile 12.3
26 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 12.3
27 myoclonic epilepsy, juvenile 3 12.2
28 deafness, congenital, and familial myoclonic epilepsy 12.2
29 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.1
30 myoclonic epilepsy, hartung type 12.1
31 ataxia with myoclonic epilepsy and presenile dementia 12.1
32 spastic paraplegia with myoclonic epilepsy 12.1
33 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.1
34 myoclonic epilepsy in non-progressive encephalopathies 12.1
35 epilepsy, idiopathic generalized 13 12.1
36 epilepsy, familial adult myoclonic, 1 12.0
37 epilepsy, familial adult myoclonic, 6 12.0
38 epilepsy, familial adult myoclonic, 7 12.0
39 epilepsy, progressive myoclonic, 4, with or without renal failure 12.0
40 epilepsy, juvenile myoclonic 10 12.0
41 epilepsy, progressive myoclonic, 8 12.0
42 epilepsy, familial adult myoclonic, 2 11.9
43 unverricht-lundborg syndrome 11.9
44 epilepsy, idiopathic generalized 11 11.9
45 epilepsy, idiopathic generalized 9 11.9
46 spastic ataxia 5, autosomal recessive 11.9
47 epilepsy, progressive myoclonic 7 11.9
48 epileptic encephalopathy, early infantile, 3 11.8
49 epileptic encephalopathy, early infantile, 4 11.8
50 epilepsy, progressive myoclonic, 9 11.8

Graphical network of the top 20 diseases related to Early Myoclonic Encephalopathy:



Diseases related to Early Myoclonic Encephalopathy

Symptoms & Phenotypes for Early Myoclonic Encephalopathy

Human phenotypes related to Early Myoclonic Encephalopathy:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized myoclonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002123
2 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
3 epileptic encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0200134
4 infantile spasms 60 33 hallmark (90%) Very frequent (99-80%) HP:0012469
5 eyelid myoclonias 60 33 hallmark (90%) Very frequent (99-80%) HP:0011168
6 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
7 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
8 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
9 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
10 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
11 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
12 poor suck 60 33 frequent (33%) Frequent (79-30%) HP:0002033
13 focal tonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0011167
14 hypsarrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002521
15 eeg abnormality 60 Very frequent (99-80%)
16 feeding difficulties 60 Frequent (79-30%)
17 focal motor seizure 60 Very frequent (99-80%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


myoclonus, muscle spasticity, myoclonic seizures

GenomeRNAi Phenotypes related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

27 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.89 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.89 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.89 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.89 EPM2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.89 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.89 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.89 SCN1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.89 EPM2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.89 SCN1B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.89 SCN1B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.89 EPM2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.89 SLC25A22
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.89 CSTB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.89 SCN1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.89 SCN1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.89 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.89 SCN1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.89 SCN1B SLC25A22
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.89 CSTB EPM2A SCN1A SCN1B SLC25A22
20 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.89 CSTB
21 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.89 SCN1A SLC25A22
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.89 SCN1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.89 SCN1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.89 EPM2A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.89 SLC25A22
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.89 SCN1B
27 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.89 EPM2A SLC25A22
28 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.89 SCN1A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.89 SLC25A22
30 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.89 SCN1A

MGI Mouse Phenotypes related to Early Myoclonic Encephalopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
2 nervous system MP:0003631 9.44 AMT ARX ATN1 CDKL5 CHRNA4 CSTB

Drugs & Therapeutics for Early Myoclonic Encephalopathy

Drugs for Early Myoclonic Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved, Investigational Phase 3 102767-28-2 441341
2
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
3
Rufinamide Approved Phase 3 106308-44-5 129228
4
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
5
Lacosamide Approved Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
6
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
7
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
8 Neurotransmitter Agents Phase 3,Phase 2
9 Nootropic Agents Phase 3
10 Anticonvulsants Phase 3,Phase 2
11 Diuretics, Potassium Sparing Phase 3,Phase 2
12 Sodium Channel Blockers Phase 3,Phase 2
13 Rho(D) Immune Globulin Phase 3
14 Immunoglobulins Phase 3
15 gamma-Globulins Phase 3
16 Immunoglobulins, Intravenous Phase 3
17 Pharmaceutical Solutions Phase 3
18 Antibodies Phase 3
19 Immunologic Factors Phase 3
20 Hormones Phase 3
21 calcium channel blockers Phase 3
22 Calcium, Dietary Phase 3
23
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
24
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
25
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
26 Antiparkinson Agents Phase 2
27 Dopamine agonists Phase 2
28 Dopamine Agents Phase 2
29
Serine Approved, Nutraceutical 56-45-1 5951
30 Serine Proteinase Inhibitors
31
protease inhibitors
32 Neuroserpin
33 Serpins
34 HIV Protease Inhibitors
35 Insulin, Globin Zinc
36 insulin
37 Ubiquinone

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Levetiracetam as add-on Treatment of Myoclonic Jerks in Adolescents + Adults Completed NCT00150774 Phase 3 Levetiracetam
2 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
3 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
4 A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304) Completed NCT01146951 Phase 3 Rufinamide (E2080);Placebo
5 A Long Term Extension Study of E2080 in Lennox-Gastaut Patients Completed NCT01151540 Phase 3 Rufinamide
6 Long-Term Safety Study of Retigabine Immediate Release (IR) as Adjunctive Therapy in the Treatment of Adults With Partial-Onset Seizures (POS) Completed NCT01336621 Phase 3 Retigabine IR
7 A Efficacy and Safety Study of Adjunctive Perampanel in Primary Generalized Tonic Clonic Seizures Completed NCT01393743 Phase 3 Perampanel;Placebo comparator
8 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
9 Safety and Efficacy of Lacosamide as Additional Therapy in Patients Suffering From Epileptic Tonic Clonic Seizures Enrolling by invitation NCT02408549 Phase 3 Lacosamide Tablet;Lasosamide Oral Solution
10 Efficacy and Safety of Adjunctive Zonisamide in Myoclonic Seizures Associated With Idiopathic Generalised Epilepsy Terminated NCT00693017 Phase 3 Zonisamide;Placebo
11 Assessment of the Efficacy and Safety of 2 Doses of Retigabine Immediate Release (900 mg/Day and 600 mg/Day) Used as Adjunctive Therapy in Adult Asian Subjects With Drug-resistant Partial-onset Seizures Terminated NCT01648101 Phase 3 Retigabine 900mg/day;Retigabine 600mg/day
12 Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome Withdrawn NCT02174094 Phase 3 Clobazam;Placebo
13 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
14 Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy Unknown status NCT01450423 Phase 2
15 Open-Label Study to Assess Lacosamide Safety as Add-on Therapy for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118949 Phase 2 Lacosamide
16 Open-Label Extension Study to Assess the Safety and Seizure Frequency Associated With Lacosamide for Primary Generalized Tonic-Clonic Seizures in Subjects With Epilepsy Completed NCT01118962 Phase 2 Lacosamide
17 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
18 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
19 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
20 Effect of Levetiracetam on Brain Excitability Completed NCT00006191
21 Ketogenic Diet for Child Epilepsy and Seizure Control Completed NCT00004729 Not Applicable
22 Epilepsy Motion Sensing Completed NCT01850498
23 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
24 Ketogenic Diet in Lafora Disease Completed NCT00007124
25 Biology of Juvenile Myoclonic Epilepsy Recruiting NCT03400371
26 Treatment of Gait Disorders in Children With Dravet Syndrome Recruiting NCT03857451
27 Natural History and Functional Status Study of Patients With Lafora Disease Recruiting NCT03876522
28 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
29 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: epilepsies, myoclonic

Genetic Tests for Early Myoclonic Encephalopathy

Genetic tests related to Early Myoclonic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Myoclonic Encephalopathy 30 SLC25A22

Anatomical Context for Early Myoclonic Encephalopathy

MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

42
Brain, Temporal Lobe, Cortex, Thalamus, Eye, Skin, Testes

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show top 50) (show all 989)
# Title Authors Year
1
Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. ( 30223294 )
2019
2
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis. ( 30409749 )
2019
3
Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex. ( 30527355 )
2019
4
Methylation of cation-chloride cotransporters NKCC1 and KCC2 in patients with juvenile myoclonic epilepsy. ( 30759289 )
2019
5
Structural and functional connectivity in newly diagnosed juvenile myoclonic epilepsy. ( 30758836 )
2019
6
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. ( 30719712 )
2019
7
Familial adult myoclonic epilepsy: A new expansion repeats disorder. ( 30928698 )
2019
8
Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome. ( 30897601 )
2019
9
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. Reply. ( 30995386 )
2019
10
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. ( 30995385 )
2019
11
Evaluation of genomic methylation indices in juvenile myoclonic epilepsy. ( 31032896 )
2019
12
Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers. ( 29979334 )
2019
13
Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. ( 30378684 )
2019
14
The utility of Jerk-locked back averaging technique in diagnosis of generalized myoclonic epilepsy with normal scalp EEG: A case report. ( 30653168 )
2019
15
Topiramate for juvenile myoclonic epilepsy. ( 30687937 )
2019
16
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. ( 30760880 )
2019
17
Treatment of Juvenile Myoclonic Epilepsy in Patients of Child-Bearing Potential. ( 30747367 )
2019
18
EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling. ( 30810526 )
2019
19
Colour vision in juvenile myoclonic epilepsy. ( 30945640 )
2019
20
BOLD-fMRI activity informed by network variation of scalp EEG in juvenile myoclonic epilepsy. ( 30897433 )
2019
21
Total corpus callosotomy for medically refractory status epilepticus due to Progressive Myoclonic Epilepsy: A clinical challenging case. ( 31042603 )
2019
22
A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital. ( 31027651 )
2019
23
A Case of Dissociative Seizures Presented like Myoclonic Epilepsy. ( 29736136 )
2018
24
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. ( 29352102 )
2018
25
Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy. ( 29396358 )
2018
26
Juvenile myoclonic epilepsy and sleep. ( 29358100 )
2018
27
ADGRV1 is implicated in myoclonic epilepsy. ( 29266188 )
2018
28
Juvenile myoclonic epilepsy - An insider's guide. ( 29223414 )
2018
29
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. ( 29194766 )
2018
30
The "Cinderella Syndrome": A narrative study of social curfews and lifestyle restrictions in juvenile myoclonic epilepsy. ( 29179101 )
2018
31
Subcortical grey matter changes in juvenile myoclonic epilepsy. ( 29159052 )
2018
32
Aberrant Thalamocortical Connectivity in Juvenile Myoclonic Epilepsy. ( 28830309 )
2018
33
Risky Decision Making in Juvenile Myoclonic Epilepsy. ( 29632513 )
2018
34
Repeat expansions in myoclonic epilepsy. ( 29632377 )
2018
35
Identification of variants in the mitochondrial lysine-tRNA (MT-TK) gene in myoclonic epilepsy-pathogenicity evaluation and structural characterization by in silico approach. ( 29663531 )
2018
36
Prevalence and clinical characteristics of headache in juvenile myoclonic epilepsy: experience from a tertiary epilepsy center. ( 29327224 )
2018
37
Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. ( 29729533 )
2018
38
The genetic basis of juvenile myoclonic epilepsy. ( 29778354 )
2018
39
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. ( 29881806 )
2018
40
Changes in Dynamics Within and Between Resting-State Subnetworks in Juvenile Myoclonic Epilepsy Occur at Multiple Frequency Bands. ( 29963004 )
2018
41
Frontal lobe cognitive functions and electroencephalographic features in juvenile myoclonic epilepsy. ( 30017834 )
2018
42
Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Answer. ( 30124485 )
2018
43
Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome. ( 30238046 )
2018
44
A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy. ( 30203790 )
2018
45
Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation. ( 30271374 )
2018
46
Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers. ( 30334546 )
2018
47
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
48
Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia. ( 30800706 )
2018
49
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. ( 29539279 )
2018
50
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy? ( 29490292 )
2018

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6 (show top 50) (show all 364)
# Gene Variation Type Significance SNP ID Assembly Location
1 JMJD1C NM_032776.2(JMJD1C): c.2313A> G (p.Gln771=) single nucleotide variant Likely benign rs200925734 GRCh38 Chromosome 10, 63213854: 63213854
2 JMJD1C NM_032776.2(JMJD1C): c.2313A> G (p.Gln771=) single nucleotide variant Likely benign rs200925734 GRCh37 Chromosome 10, 64973614: 64973614
3 SLC25A22 NM_001191061.2(SLC25A22): c.818G> A (p.Arg273Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 792142: 792142
4 SLC25A22 NM_001191061.2(SLC25A22): c.818G> A (p.Arg273Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 792142: 792142
5 JMJD1C NM_032776.2(JMJD1C): c.58G> A (p.Gly20Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63465605: 63465605
6 JMJD1C NM_032776.2(JMJD1C): c.58G> A (p.Gly20Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 65225365: 65225365
7 JMJD1C NM_032776.2(JMJD1C): c.1634A> G (p.Lys545Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63214533: 63214533
8 JMJD1C NM_032776.2(JMJD1C): c.1634A> G (p.Lys545Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64974293: 64974293
9 JMJD1C NM_032776.2(JMJD1C): c.5400G> T (p.Glu1800Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63198604: 63198604
10 JMJD1C NM_032776.2(JMJD1C): c.5400G> T (p.Glu1800Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64958364: 64958364
11 JMJD1C NM_032776.2(JMJD1C): c.7612G> C (p.Glu2538Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63168056: 63168056
12 JMJD1C NM_032776.2(JMJD1C): c.7612G> C (p.Glu2538Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64927816: 64927816
13 SLC25A22 NM_024698.5(SLC25A22): c.553G> A (p.Gly185Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 792587: 792587
14 SLC25A22 NM_024698.5(SLC25A22): c.553G> A (p.Gly185Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 792587: 792587
15 JMJD1C NM_032776.2(JMJD1C): c.1166T> C (p.Ile389Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63215001: 63215001
16 JMJD1C NM_032776.2(JMJD1C): c.1166T> C (p.Ile389Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64974761: 64974761
17 JMJD1C NM_032776.2(JMJD1C): c.1732A> C (p.Ser578Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64974195: 64974195
18 JMJD1C NM_032776.2(JMJD1C): c.1732A> C (p.Ser578Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63214435: 63214435
19 JMJD1C NM_032776.2(JMJD1C): c.2300G> C (p.Gly767Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64973627: 64973627
20 JMJD1C NM_032776.2(JMJD1C): c.2300G> C (p.Gly767Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63213867: 63213867
21 JMJD1C NM_032776.2(JMJD1C): c.3418A> G (p.Ile1140Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63208251: 63208251
22 JMJD1C NM_032776.2(JMJD1C): c.3418A> G (p.Ile1140Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64968011: 64968011
23 JMJD1C NM_032776.2(JMJD1C): c.6427A> G (p.Ile2143Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63189311: 63189311
24 JMJD1C NM_032776.2(JMJD1C): c.6427A> G (p.Ile2143Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64949071: 64949071
25 JMJD1C NM_032776.2(JMJD1C): c.7303C> T (p.Leu2435Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64936155: 64936155
26 JMJD1C NM_032776.2(JMJD1C): c.7303C> T (p.Leu2435Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63176395: 63176395
27 KCND2 NM_012281.2(KCND2): c.1598G> A (p.Arg533Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 120745910: 120745910
28 KCND2 NM_012281.2(KCND2): c.1598G> A (p.Arg533Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 120385964: 120385964
29 KCND2 NM_012281.2(KCND2): c.1534C> T (p.Pro512Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 120745846: 120745846
30 KCND2 NM_012281.2(KCND2): c.1534C> T (p.Pro512Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 120385900: 120385900
31 KCND2 NM_012281.2(KCND2): c.1467G> A (p.Thr489=) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 120742602: 120742602
32 KCND2 NM_012281.2(KCND2): c.1467G> A (p.Thr489=) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 120382656: 120382656
33 KCND2 NM_012281.2(KCND2): c.1321G> A (p.Ala441Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 120381630: 120381630
34 KCND2 NM_012281.2(KCND2): c.1321G> A (p.Ala441Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 120741576: 120741576
35 JMJD1C NM_032776.2(JMJD1C): c.532delG (p.Val178Phefs) deletion Uncertain significance GRCh38 Chromosome 10, 63219899: 63219899
36 JMJD1C NM_032776.2(JMJD1C): c.532delG (p.Val178Phefs) deletion Uncertain significance GRCh37 Chromosome 10, 64979659: 64979659
37 JMJD1C NM_032776.2(JMJD1C): c.1789G> A (p.Val597Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64974138: 64974138
38 JMJD1C NM_032776.2(JMJD1C): c.1789G> A (p.Val597Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63214378: 63214378
39 JMJD1C NM_032776.2(JMJD1C): c.2185A> G (p.Ile729Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63213982: 63213982
40 JMJD1C NM_032776.2(JMJD1C): c.2185A> G (p.Ile729Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64973742: 64973742
41 JMJD1C NM_032776.2(JMJD1C): c.2637_2638delTTinsGC (p.Ser880Pro) indel Uncertain significance GRCh38 Chromosome 10, 63213529: 63213530
42 JMJD1C NM_032776.2(JMJD1C): c.2637_2638delTTinsGC (p.Ser880Pro) indel Uncertain significance GRCh37 Chromosome 10, 64973289: 64973290
43 JMJD1C NM_032776.2(JMJD1C): c.3215G> A (p.Arg1072His) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63208454: 63208454
44 JMJD1C NM_032776.2(JMJD1C): c.3215G> A (p.Arg1072His) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64968214: 64968214
45 JMJD1C NM_032776.2(JMJD1C): c.3248C> T (p.Ser1083Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63208421: 63208421
46 JMJD1C NM_032776.2(JMJD1C): c.3248C> T (p.Ser1083Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64968181: 64968181
47 JMJD1C NM_032776.2(JMJD1C): c.3922C> T (p.Arg1308Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63207747: 63207747
48 JMJD1C NM_032776.2(JMJD1C): c.3922C> T (p.Arg1308Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64967507: 64967507
49 JMJD1C NM_032776.2(JMJD1C): c.4201T> C (p.Ser1401Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 64967228: 64967228
50 JMJD1C NM_032776.2(JMJD1C): c.4201T> C (p.Ser1401Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 63207468: 63207468

Copy number variations for Early Myoclonic Encephalopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 48735 11 102165860 102174104 Amplification MMP1 Myoclonic epilepsy
2 159658 21 44018259 44020687 Duplication CSTB Myoclonic epilepsy
3 138575 2 166553915 166638395 Deletion SCN1A Myoclonic epilepsy

Expression for Early Myoclonic Encephalopathy

Search GEO for disease gene expression data for Early Myoclonic Encephalopathy.

Pathways for Early Myoclonic Encephalopathy

GO Terms for Early Myoclonic Encephalopathy

Cellular components related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.46 CHRNA4 ERBB4 GABRG2 KCND2
2 node of Ranvier GO:0033268 9.32 SCN1A SCN1B
3 voltage-gated sodium channel complex GO:0001518 9.26 SCN1A SCN1B
4 GABA-ergic synapse GO:0098982 9.13 ERBB4 GABRG2 KCND2
5 sodium channel complex GO:0034706 8.62 SCN1A SCN1B

Biological processes related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.61 CHRNA4 GABRG2 SCN1A
2 membrane depolarization GO:0051899 9.46 CHRNA4 SCN1B
3 chemical synaptic transmission GO:0007268 9.43 CHRNA4 GABRG2 KCND2
4 ion transport GO:0006811 9.43 SLC25A22 SCN1B CHRNA4 GABRG2 KCND2 SCN1A
5 regulation of sodium ion transport GO:0002028 9.4 SCN1B SIK1
6 action potential GO:0001508 9.37 CHRNA4 KCND2
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.32 SCN1A SCN1B
8 neuronal action potential propagation GO:0019227 9.16 SCN1A SCN1B
9 regulation of postsynaptic membrane potential GO:0060078 8.8 CHRNA4 KCND2 GABRG2

Molecular functions related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.33 KCND2 SCN1A SCN1B
2 voltage-gated sodium channel activity GO:0005248 8.96 SCN1A SCN1B
3 ion channel activity GO:0005216 8.92 CHRNA4 GABRG2 KCND2 SCN1A

Sources for Early Myoclonic Encephalopathy

3 CDC
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10 dbSNP
11 DGIdb
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18 ExPASy
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70 SNOMED-CT via HPO
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