MCID: ERL001
MIFTS: 44

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 56 29 14 69
Epilepsies, Myoclonic 42 69
Myoclonic Seizure 12 52
Early Myoclonic Encephalopathy with Suppression-Bursts 56
Epileptic Seizures - Myoclonic 12
Epileptic Seizures, Myoclonic 12
Myoclonic Seizure Disorder 12
Myoclonia Epileptica 12
Myoclonic Epilepsy 12

Characteristics:

Orphanet epidemiological data:

56
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 42 D004831
Orphanet 56 ORPHA1935
UMLS via Orphanet 70 C0270855
ICD10 via Orphanet 34 G40.4
UMLS 69 C0014550

Summaries for Early Myoclonic Encephalopathy

MalaCards based summary : Early Myoclonic Encephalopathy, also known as epilepsies, myoclonic, is related to epilepsy, generalized, with febrile seizures plus, type 5 and spinal muscular atrophy with progressive myoclonic epilepsy, and has symptoms including dysphagia, myoclonus and recurrent respiratory infections. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22). The drugs HIV Protease Inhibitors and Neuroserpin have been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Wikipedia : 72 Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the... 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 73)
id Related Disease Score Top Affiliating Genes
1 epilepsy, generalized, with febrile seizures plus, type 5 32.3 CHRNA4 CSTB GABRG2 SCN1A
2 spinal muscular atrophy with progressive myoclonic epilepsy 12.4
3 myoclonic epilepsy associated with ragged-red fibers 12.3
4 myoclonic epilepsy, infantile, familial 12.2
5 myoclonic epilepsy, juvenile 1 12.2
6 myoclonic epilepsy myopathy sensory ataxia 12.1
7 myoclonic epilepsy of infancy 12.0
8 benign adult familial myoclonic epilepsy 12.0
9 progressive myoclonic epilepsy 5 11.8
10 cacnb4-related juvenile myoclonic epilepsy 11.8
11 clcn2-related juvenile myoclonic epilepsy 11.8
12 efhc1-related juvenile myoclonic epilepsy 11.8
13 ejm2-related juvenile myoclonic epilepsy 11.8
14 ejm3-related juvenile myoclonic epilepsy 11.8
15 ejm4-related juvenile myoclonic epilepsy 11.8
16 gabra1-related juvenile myoclonic epilepsy 11.8
17 gabrd-related juvenile myoclonic epilepsy 11.8
18 scn1a-related severe myoclonic epilepsy in infancy 11.8
19 myoclonic epilepsy in non-progressive encephalopathies 11.8
20 epilepsy, progressive myoclonic 2b 11.8
21 epilepsy, progressive myoclonic 1a 11.7
22 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.7
23 epileptic encephalopathy, early infantile, 6 11.7
24 epilepsy, progressive myoclonic 4, with or without renal failure 11.6
25 epilepsy, juvenile myoclonic 5 11.6
26 progressive myoclonus epilepsy 11.6
27 epilepsy, idiopathic generalized 9 11.6
28 epilepsy, idiopathic generalized 11 11.6
29 epilepsy, progressive myoclonic 7 11.6
30 epilepsy, myoclonic, familial adult, 2 11.6
31 epilepsy, progressive myoclonic, 9 11.5
32 epilepsy, progressive myoclonic, 8 11.5
33 epilepsy, progressive myoclonic 6 11.4
34 unverricht-lundborg syndrome 11.3
35 progressive myoclonus epilepsy, lafora type 11.2
36 myoclonic astatic epilepsy 11.2
37 generalized epilepsy with febrile seizures plus 11.1
38 epileptic encephalopathy, early infantile, 4 11.0
39 epileptic encephalopathy, early infantile, 3 11.0
40 encephalopathy 10.5
41 man1b1-cdg 10.4 SCN1A SLC25A22
42 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 10.3 GABRG2 SCN1A
43 brugada syndrome 5 10.3 SCN1A SCN1B
44 childhood malignant schwannoma 10.2 CSTB SCN1A
45 sensory peripheral neuropathy 10.2 ARX CDKL5 SCN1A
46 3-methylcrotonyl-coa carboxylase deficiency 10.2 CSTB GABRG2 SCN1A
47 fainting 10.0 ARX CDKL5 SCN1A SLC25A22
48 myoglobinuria recurrent 10.0 CSTB EPM2A
49 infantile epileptic encephalopathy 9.9
50 adult choroid plexus cancer 9.9 CSTB EPM2A MT-TK

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:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
2 myoclonus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001336
3 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
4 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
5 lethargy 56 32 frequent (33%) Frequent (79-30%) HP:0001254
6 hypsarrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002521
7 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
8 epileptic encephalopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0200134
9 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
10 poor suck 56 32 frequent (33%) Frequent (79-30%) HP:0002033
11 infantile spasms 56 32 hallmark (90%) Very frequent (99-80%) HP:0012469
12 generalized myoclonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002123
13 eyelid myoclonias 56 32 hallmark (90%) Very frequent (99-80%) HP:0011168
14 focal tonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0011167
15 feeding difficulties 56 Frequent (79-30%)
16 eeg abnormality 56 Very frequent (99-80%)
17 focal motor seizures 56 Very frequent (99-80%)

UMLS symptoms related to Early Myoclonic Encephalopathy:


myoclonus, seizures, muscle spasticity

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

26
id 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 SLC25A22 CSTB 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 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ARX ATN1 CDKL5 CHRNA4 CSTB EPM2A
2 mortality/aging MP:0010768 9.7 AMT ARX ATN1 CHRNA4 EPM2A ERBB4
3 nervous system MP:0003631 9.44 SCN1A SCN1B SHOX2 AMT ARX ATN1

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 HIV Protease Inhibitors
2 Neuroserpin
3
protease inhibitors
4 Serine Proteinase Inhibitors
5 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
2 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
3 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608

Search NIH Clinical Center for Early Myoclonic Encephalopathy

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: epilepsies, myoclonic

Genetic Tests for Early Myoclonic Encephalopathy

Genetic tests related to Early Myoclonic Encephalopathy:

id Genetic test Affiliating Genes
1 Early Myoclonic Encephalopathy 29

Anatomical Context for Early Myoclonic Encephalopathy

Publications for Early Myoclonic Encephalopathy

Articles related to Early Myoclonic Encephalopathy:

(show all 27)
id 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
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
7
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
8
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
9
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
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 caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
12
Early myoclonic encephalopathy. ( 19812426 )
2009
13
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
14
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
15
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
16
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
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
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
26
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
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
id 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.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
3 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
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
id 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:

id 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:

id 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:

id 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 8.62 CHRNA4 SCN1A

Sources for Early Myoclonic Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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