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 59 37 29 6 15 73
Myoclonic Epilepsy 12 76 6
Epilepsies, Myoclonic 44 73
Myoclonic Seizure 12 55
Early Myoclonic Encephalopathy with Suppression-Bursts 59
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12

Characteristics:

Orphanet epidemiological data:

59
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
MeSH 44 D004831
Orphanet 59 ORPHA1935
UMLS via Orphanet 74 C0270855
ICD10 via Orphanet 34 G40.4
KEGG 37 H01819

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, myoclonic seizures and muscle spasticity. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are muscular hypotonia and hyperreflexia

Wikipedia : 76 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 200)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 34.0 CSTB EPM2A
2 myoclonic epilepsy of infancy 33.5 GABRG2 SCN1A
3 epilepsy, idiopathic generalized 10 33.5 CSTB GABRG2 SCN1A TBC1D24
4 epileptic encephalopathy, early infantile, 6 32.7 CDKL5 GABRG2 SCN1A SCN1B SLC25A22 TBC1D24
5 unverricht-lundborg syndrome 32.3 CSTB EPM2A TBC1D24
6 myoclonus epilepsy 31.8 CSTB EPM2A
7 progressive myoclonus epilepsy 31.8 CSTB EPM2A TBC1D24
8 generalized epilepsy with febrile seizures plus 31.7 GABRG2 SCN1A SCN1B TBC1D24
9 epileptic encephalopathy, early infantile, 1 31.6 ARX TBC1D24
10 generalized epilepsy with febrile seizures plus, type 1 31.5 SCN1A SCN1B
11 epilepsy, idiopathic generalized 31.4 ARX CDKL5 GABRG2 SCN1A SCN1B TBC1D24
12 encephalopathy 30.9 ARX CDKL5 MT-ND5 SCN1A SLC25A22
13 febrile seizures 30.3 GABRG2 SCN1A SCN1B
14 focal epilepsy 29.9 CDKL5 GABRG2 SCN1A TBC1D24
15 seizure disorder 29.8 CDKL5 SCN1A TBC1D24
16 early infantile epileptic encephalopathy 29.7 ARX CDKL5 SCN1A SIK1 SLC25A22 TBC1D24
17 lennox-gastaut syndrome 29.7 GABRG2 SCN1A TBC1D24
18 benign epilepsy with centrotemporal spikes 29.3 CSTB EPM2A GABRG2 SCN1B TBC1D24
19 west syndrome 29.0 ARX CDKL5 SCN1A SHOX2 SIK1 TBC1D24
20 epilepsy 28.7 ARX ATN1 CDKL5 CSTB EPM2A GABRG2
21 spinal muscular atrophy with progressive myoclonic epilepsy 12.7
22 myoclonic epilepsy of lafora 12.6
23 myoclonic epilepsy associated with ragged-red fibers 12.6
24 myoclonic epilepsy, familial infantile 12.6
25 myoclonic epilepsy myopathy sensory ataxia 12.4
26 benign adult familial myoclonic epilepsy 12.3
27 myoclonic epilepsy, juvenile 4 12.2
28 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 12.2
29 epilepsy, myoclonic juvenile 12.2
30 myoclonic epilepsy, juvenile 3 12.2
31 deafness, congenital, and familial myoclonic epilepsy 12.1
32 myoclonic epilepsy, hartung type 12.1
33 ataxia with myoclonic epilepsy and presenile dementia 12.1
34 spastic paraplegia with myoclonic epilepsy 12.1
35 progressive myoclonic epilepsy type 5 12.1
36 myoclonic epilepsy in non-progressive encephalopathies 12.1
37 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.9
38 epilepsy, idiopathic generalized 13 11.9
39 epilepsy, idiopathic generalized 11 11.8
40 epilepsy, idiopathic generalized 9 11.8
41 spastic ataxia 5, autosomal recessive 11.8
42 epilepsy, progressive myoclonic 7 11.8
43 epilepsy, familial adult myoclonic, 2 11.8
44 epilepsy, progressive myoclonic, 4, with or without renal failure 11.8
45 epilepsy, juvenile myoclonic 10 11.8
46 epileptic encephalopathy, early infantile, 3 11.8
47 epileptic encephalopathy, early infantile, 4 11.8
48 epilepsy, progressive myoclonic, 8 11.8
49 epilepsy, progressive myoclonic, 9 11.8
50 progressive myoclonus epilepsy, lafora type 11.7

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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
2 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
6 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
7 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
8 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
9 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
10 poor suck 59 32 frequent (33%) Frequent (79-30%) HP:0002033
11 hypsarrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002521
12 epileptic encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0200134
13 eyelid myoclonias 59 32 hallmark (90%) Very frequent (99-80%) HP:0011168
14 focal tonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0011167
15 eeg abnormality 59 Very frequent (99-80%)
16 feeding difficulties 59 Frequent (79-30%)
17 focal motor seizures 59 Very frequent (99-80%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


myoclonus, myoclonic seizures, muscle spasticity

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

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.88 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.88 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.88 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.88 EPM2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.88 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.88 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.88 EPM2A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.88 SCN1B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.88 SCN1B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.88 EPM2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.88 SLC25A22
12 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.88 CSTB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.88 SCN1B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.88 SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.88 SCN1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.88 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.88 SCN1B SLC25A22
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 CSTB EPM2A SCN1A SCN1B SLC25A22
19 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.88 CSTB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.88 SCN1A SLC25A22
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 SCN1B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.88 SCN1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 EPM2A
24 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.88 SLC25A22
25 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.88 SCN1B
26 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.88 EPM2A SLC25A22
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.88 SCN1A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.88 SLC25A22
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.88 SCN1A

MGI Mouse Phenotypes related to Early Myoclonic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARX ATN1 CDKL5 CSTB EPM2A ERBB4
2 nervous system MP:0003631 9.44 AMT ARX ATN1 CDKL5 CSTB EPM2A

Drugs & Therapeutics for Early Myoclonic Encephalopathy

Search Clinical Trials , NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 SLC25A22

Anatomical Context for Early Myoclonic Encephalopathy

MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

41
Brain, Cortex, Temporal Lobe, Skin, Eye, Thalamus, Cerebellum

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show top 50) (show all 396)
# Title Authors Year
1
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder. ( 29790814 )
2018
2
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ( 30001564 )
2018
3
Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex. ( 30527355 )
2018
4
Psychosocial complications in juvenile myoclonic epilepsy. ( 30530133 )
2018
5
Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. ( 30378684 )
2018
6
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis. ( 30409749 )
2018
7
Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation. ( 30334528 )
2018
8
Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers. ( 30334546 )
2018
9
Reply to "Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers". ( 30334547 )
2018
10
Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity. ( 30248569 )
2018
11
Response to the paper titled "Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy". ( 30254444 )
2018
12
Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation. ( 30271374 )
2018
13
Progressive dissociation of cortical and subcortical network development in children with new-onset juvenile myoclonic epilepsy. ( 30281148 )
2018
14
A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy. ( 30203790 )
2018
15
Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors. ( 30223294 )
2018
16
Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome. ( 30238046 )
2018
17
Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Answer. ( 30124485 )
2018
18
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. ( 30127718 )
2018
19
Prevalence and clinical characteristics of headache in juvenile myoclonic epilepsy: experience from a tertiary epilepsy center. ( 29327224 )
2018
20
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. ( 29881806 )
2018
21
Aberrant Thalamocortical Connectivity in Juvenile Myoclonic Epilepsy. ( 28830309 )
2018
22
Subcortical grey matter changes in juvenile myoclonic epilepsy. ( 29159052 )
2018
23
The "Cinderella Syndrome": A narrative study of social curfews and lifestyle restrictions in juvenile myoclonic epilepsy. ( 29179101 )
2018
24
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. ( 29194766 )
2018
25
Juvenile myoclonic epilepsy - An insider's guide. ( 29223414 )
2018
26
Juvenile myoclonic epilepsy and sleep. ( 29358100 )
2018
27
Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy. ( 29396358 )
2018
28
Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center. ( 29602081 )
2018
29
DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians. ( 29608786 )
2018
30
Risky Decision Making in Juvenile Myoclonic Epilepsy. ( 29632513 )
2018
31
Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study. ( 29681927 )
2018
32
Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types. ( 29729533 )
2018
33
Juvenile Myoclonic Epilepsy Presenting with Neurocognitive Impairment: A Case Report. ( 29736355 )
2018
34
The genetic basis of juvenile myoclonic epilepsy. ( 29778354 )
2018
35
Changes in Dynamics Within and Between Resting-State Subnetworks in Juvenile Myoclonic Epilepsy Occur at Multiple Frequency Bands. ( 29963004 )
2018
36
Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study. ( 30008695 )
2018
37
Frontal lobe cognitive functions and electroencephalographic features in juvenile myoclonic epilepsy. ( 30017834 )
2018
38
Higher IQ in juvenile myoclonic epilepsy: Dodging cognitive obstacles and "masking" impairments. ( 30017836 )
2018
39
Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Challenge. ( 28692462 )
2018
40
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. ( 29352102 )
2018
41
Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. ( 29428275 )
2018
42
Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report. ( 29642155 )
2018
43
Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation. ( 29899791 )
2018
44
CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report. ( 28927557 )
2018
45
Crossing the lines between epilepsy syndromes: a myoclonic epilepsy variant with prominent eyelid myoclonia and atonic components. ( 29171397 )
2018
46
ADGRV1 is implicated in myoclonic epilepsy. ( 29266188 )
2018
47
Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome. ( 29288969 )
2018
48
Repeat expansions in myoclonic epilepsy. ( 29632377 )
2018
49
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
50
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient. ( 29941710 )
2018

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6 (show top 50) (show all 356)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 Chromosome 11, 792429: 792429
2 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh38 Chromosome 11, 792429: 792429
3 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
4 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh38 Chromosome 11, 792340: 792340
5 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
6 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh37 Chromosome 11, 792954: 792954
7 SLC25A22 NM_024698.5(SLC25A22): c.151G> A (p.Asp51Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116134953 GRCh38 Chromosome 11, 794509: 794509
8 SLC25A22 NM_024698.5(SLC25A22): c.151G> A (p.Asp51Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116134953 GRCh37 Chromosome 11, 794509: 794509
9 SLC25A22 NM_024698.5(SLC25A22): c.413-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs376015598 GRCh38 Chromosome 11, 792735: 792735
10 SLC25A22 NM_024698.5(SLC25A22): c.413-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs376015598 GRCh37 Chromosome 11, 792735: 792735
11 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh37 Chromosome 11, 791881: 791881
12 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh38 Chromosome 11, 791881: 791881
13 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh37 Chromosome 11, 791990: 791990
14 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh38 Chromosome 11, 791990: 791990
15 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh37 Chromosome 11, 792666: 792666
16 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh38 Chromosome 11, 792666: 792666
17 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh37 Chromosome 11, 794481: 794481
18 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh38 Chromosome 11, 794481: 794481
19 CHRNA2 NM_000742.3(CHRNA2): c.202C> T (p.Arg68Trp) single nucleotide variant Uncertain significance rs376970816 GRCh37 Chromosome 8, 27327370: 27327370
20 CHRNA2 NM_000742.3(CHRNA2): c.202C> T (p.Arg68Trp) single nucleotide variant Uncertain significance rs376970816 GRCh38 Chromosome 8, 27469853: 27469853
21 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh37 Chromosome 11, 792722: 792722
22 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
23 JMJD1C NM_032776.2(JMJD1C): c.488C> T (p.Pro163Leu) single nucleotide variant Uncertain significance rs766449028 GRCh37 Chromosome 10, 64979703: 64979703
24 JMJD1C NM_032776.2(JMJD1C): c.488C> T (p.Pro163Leu) single nucleotide variant Uncertain significance rs766449028 GRCh38 Chromosome 10, 63219943: 63219943
25 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 792888: 792888
26 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 11, 792888: 792888
27 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh37 Chromosome 7, 120381647: 120381647
28 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh38 Chromosome 7, 120741593: 120741593
29 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh37 Chromosome 7, 119914728: 119914728
30 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh38 Chromosome 7, 120274674: 120274674
31 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh37 Chromosome 7, 119914902: 119914902
32 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh38 Chromosome 7, 120274848: 120274848
33 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh37 Chromosome 7, 119915118: 119915118
34 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh38 Chromosome 7, 120275064: 120275064
35 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh37 Chromosome 7, 119915142: 119915142
36 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh38 Chromosome 7, 120275088: 120275088
37 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh37 Chromosome 7, 119915432: 119915432
38 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh38 Chromosome 7, 120275378: 120275378
39 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh37 Chromosome 7, 119915635: 119915635
40 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh38 Chromosome 7, 120275581: 120275581
41 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 119915664: 119915664
42 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 120275610: 120275610
43 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh37 Chromosome 7, 120382556: 120382556
44 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh38 Chromosome 7, 120742502: 120742502
45 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh37 Chromosome 7, 120385851: 120385851
46 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh38 Chromosome 7, 120745797: 120745797
47 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh37 Chromosome 7, 119915487: 119915487
48 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh38 Chromosome 7, 120275433: 120275433
49 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh37 Chromosome 7, 120385839: 120385839
50 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh38 Chromosome 7, 120745785: 120745785

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 138575 2 166553915 166638395 Deletion SCN1A Myoclonic epilepsy
3 159658 21 44018259 44020687 Duplication CSTB Myoclonic epilepsy

Expression for Early Myoclonic Encephalopathy

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

Pathways for Early Myoclonic Encephalopathy

Pathways related to Early Myoclonic Encephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 KCND2 SCN1A SCN1B TPH1

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 node of Ranvier GO:0033268 9.26 SCN1A SCN1B
2 voltage-gated sodium channel complex GO:0001518 9.16 SCN1A SCN1B
3 GABA-ergic synapse GO:0098982 9.13 ERBB4 GABRG2 KCND2
4 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 ion transport GO:0006811 9.72 GABRG2 KCND2 SCN1A SCN1B SLC25A22
2 regulation of sodium ion transport GO:0002028 9.26 SCN1B SIK1
3 mammary gland alveolus development GO:0060749 9.16 ERBB4 TPH1
4 cardiac muscle cell action potential involved in contraction GO:0086002 8.96 SCN1A SCN1B
5 neuronal action potential propagation GO:0019227 8.62 SCN1A SCN1B

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.33 GABRG2 KCND2 SCN1A
2 voltage-gated ion channel activity GO:0005244 9.13 KCND2 SCN1A SCN1B
3 voltage-gated sodium channel activity GO:0005248 8.62 SCN1A SCN1B

Sources for Early Myoclonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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