MCID: ERL001
MIFTS: 41

Early Myoclonic Encephalopathy

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Early Myoclonic Encephalopathy

MalaCards integrated aliases for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 12 55 36 28 14 69
Epilepsies, Myoclonic 41 69
Myoclonic Epilepsy 12 72
Myoclonic Seizure 12 51
Early Myoclonic Encephalopathy with Suppression-Bursts 55
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12

Characteristics:

Orphanet epidemiological data:

55
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 41 D004831
Orphanet 55 ORPHA1935
UMLS via Orphanet 70 C0270855
ICD10 via Orphanet 33 G40.4
KEGG 36 H01819

Summaries for Early Myoclonic Encephalopathy

MalaCards based summary : Early Myoclonic Encephalopathy, also known as epilepsies, myoclonic, is related to myoclonic epilepsy of unverricht and lundborg and myoclonic epilepsy of infancy, and has symptoms including myoclonus, generalized myoclonic seizures and eyelid myoclonias. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22). Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 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 69)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 34.4 CSTB EPM2A
2 myoclonic epilepsy of infancy 33.7 GABRG2 SCN1A
3 myoclonic epilepsy associated with ragged-red fibers 33.2 COX5A MT-ND5 MT-TK
4 epilepsy, idiopathic generalized 10 33.1 CHRNA4 CSTB GABRG2 SCN1A
5 epileptic encephalopathy, early infantile, 6 32.5 CDKL5 GABRG2 SCN1A SCN1B SLC25A22
6 unverricht-lundborg syndrome 32.1 CSTB EPM2A MT-TK
7 encephalopathy 30.9 ARX CDKL5 SCN1A SLC25A22
8 epilepsy, idiopathic generalized 30.8 ARX CDKL5 CHRNA4 GABRG2 SCN1A SCN1B
9 infantile epileptic encephalopathy 30.2 ARX CDKL5 SCN1A
10 epileptic encephalopathy, early infantile, 15 29.8 ARX CDKL5 SCN1A SIK1 SLC25A22
11 west syndrome 29.4 ARX CDKL5 SCN1A SIK1 SLC25A22 TPH1
12 epilepsy 28.3 ARX CHRNA4 CSTB EPM2A GABRG2 SCN1A
13 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
14 myoclonic epilepsy of lafora 12.5
15 myoclonic epilepsy, familial infantile 12.4
16 myoclonic epilepsy myopathy sensory ataxia 12.2
17 benign adult familial myoclonic epilepsy 12.1
18 myoclonic epilepsy, juvenile 4 12.1
19 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 12.1
20 myoclonic epilepsy, juvenile 3 12.0
21 epilepsy, myoclonic juvenile 12.0
22 deafness, congenital, and familial myoclonic epilepsy 12.0
23 myoclonic epilepsy, hartung type 11.9
24 ataxia with myoclonic epilepsy and presenile dementia 11.9
25 spastic paraplegia with myoclonic epilepsy 11.9
26 progressive myoclonic epilepsy type 5 11.9
27 myoclonic epilepsy in non-progressive encephalopathies 11.9
28 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.8
29 epilepsy, idiopathic generalized 13 11.7
30 epilepsy, idiopathic generalized 11 11.7
31 epilepsy, idiopathic generalized 9 11.7
32 spastic ataxia 5, autosomal recessive 11.7
33 epilepsy, progressive myoclonic 7 11.7
34 epilepsy, familial adult myoclonic, 2 11.7
35 epilepsy, progressive myoclonic, 4, with or without renal failure 11.7
36 epileptic encephalopathy, early infantile, 3 11.6
37 epileptic encephalopathy, early infantile, 4 11.6
38 epilepsy, progressive myoclonic, 8 11.6
39 epilepsy, progressive myoclonic, 9 11.6
40 epilepsy, progressive myoclonic, 6 11.5
41 epileptic encephalopathy, early infantile, 16 11.3
42 myoclonic astatic epilepsy 11.3
43 dentatorubral-pallidoluysian atrophy 11.2
44 progressive myoclonus epilepsy, lafora type 11.2
45 progressive myoclonus epilepsy 11.2
46 epilepsy with generalized tonic-clonic seizures 10.3 CSTB SCN1A
47 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1A SCN1B
48 malignant migrating partial seizures of infancy 10.2 SCN1A SLC25A22
49 myoclonus epilepsy 10.2 ATN1 CSTB EPM2A
50 adolescence-adult electroclinical syndrome 10.1 CSTB GABRG2 SCN1A

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:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001336
2 generalized myoclonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002123
3 eyelid myoclonias 55 31 hallmark (90%) Very frequent (99-80%) HP:0011168
4 infantile spasms 55 31 hallmark (90%) Very frequent (99-80%) HP:0012469
5 epileptic encephalopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0200134
6 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
7 lethargy 55 31 frequent (33%) Frequent (79-30%) HP:0001254
8 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
9 hyperreflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001347
10 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
11 poor suck 55 31 frequent (33%) Frequent (79-30%) HP:0002033
12 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
13 focal tonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0011167
14 hypsarrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002521
15 eeg abnormality 55 Very frequent (99-80%)
16 focal motor seizures 55 Very frequent (99-80%)
17 feeding difficulties 55 Frequent (79-30%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


muscle spasticity, myoclonic seizures, myoclonus

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

25 (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 SCN1A SCN1B CSTB SLC25A22 EPM2A
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 SLC25A22 EPM2A
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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 EPM2A ERBB4 GABRG2 GBA SCN1A SCN1B
2 nervous system MP:0003631 9.44 ERBB4 GABRG2 GBA SCN1A SCN1B SHOX2

Drugs & Therapeutics for Early Myoclonic Encephalopathy

Search Clinical Trials , NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28 SLC25A22

Anatomical Context for Early Myoclonic Encephalopathy

MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

38
Brain

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show all 27)
# Title Authors Year
1
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. ( 28687180 )
2017
2
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. ( 27789573 )
2016
3
Early Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1. ( 25779878 )
2015
4
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. ( 26371980 )
2015
5
Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. ( 23886871 )
2013
6
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
7
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
8
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
2012
9
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
10
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. ( 19922588 )
2010
11
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
12
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
13
Early myoclonic encephalopathy. ( 19812426 )
2009
14
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
15
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
16
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
17
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. ( 16010070 )
2005
18
Topiramate for the treatment of infants with early myoclonic encephalopathy. ( 23649028 )
2003
19
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
20
A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. ( 10761830 )
2000
21
The controversy regarding diagnostic criteria for early myoclonic encephalopathy. ( 9840674 )
1998
22
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. ( 9105663 )
1997
23
Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. ( 8271543 )
1993
24
Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. ( 8404728 )
1993
25
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
1990
26
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
27
Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. ( 2510534 )
1989

Variations for Early Myoclonic Encephalopathy

ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
2 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 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_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
5 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 792888: 792888

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

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 9.16 SCN1A SCN1B
2 voltage-gated sodium channel complex GO:0001518 8.96 SCN1A SCN1B
3 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 9.77 CHRNA4 GABRG2 SCN1A SCN1B SLC25A22
2 membrane depolarization GO:0051899 9.4 CHRNA4 SCN1B
3 regulation of sodium ion transport GO:0002028 9.32 SCN1B SIK1
4 mammary gland alveolus development GO:0060749 9.26 ERBB4 TPH1
5 cardiac muscle cell action potential involved in contraction GO:0086002 9.16 SCN1A SCN1B
6 neuronal action potential propagation GO:0019227 8.96 SCN1A SCN1B
7 regulation of postsynaptic membrane potential GO:0060078 8.8 CHRNA4 SCN1A SCN1B

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel activity GO:0005248 8.96 SCN1A SCN1B
2 ion channel activity GO:0005216 8.8 CHRNA4 GABRG2 SCN1A

Sources for Early Myoclonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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