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MCID: ERL001
MIFTS: 42

Early Myoclonic Encephalopathy

Categories: Neuronal diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Early Myoclonic Encephalopathy

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MalaCards integrated aliases for Early Myoclonic Encephalopathy:

Name: Early Myoclonic Encephalopathy 12 59 37 29 6 15 73
Epilepsies, Myoclonic 44 73
Myoclonic Epilepsy 12 76
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:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism


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
Sources

Summaries for Early Myoclonic Encephalopathy

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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, 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, and related phenotypes are myoclonus and generalized myoclonic seizures

Wikipedia : 76 Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks... more...

Sources

Related Diseases for Early Myoclonic Encephalopathy

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 34.6 CSTB EPM2A
2 myoclonic epilepsy of infancy 33.7 GABRG2 SCN1A
3 epilepsy, idiopathic generalized 10 33.3 CSTB GABRG2 SCN1A
4 myoclonic epilepsy associated with ragged-red fibers 32.6 COX5A MT-ND5 MT-TK
5 epileptic encephalopathy, early infantile, 6 31.5 CDKL5 GABRG2 SCN1A SCN1B SLC25A22
6 unverricht-lundborg syndrome 31.4 CSTB EPM2A MT-TK
7 generalized epilepsy with febrile seizures plus 31.1 GABRG2 SCN1A SCN1B
8 encephalopathy 30.5 CDKL5 MT-ND5 SCN1A SLC25A22
9 epilepsy, idiopathic generalized 30.2 ARX CDKL5 GABRG2 SCN1A SCN1B
10 infantile epileptic encephalopathy 29.9 ARX CDKL5 SCN1A SLC25A22
11 epileptic encephalopathy, early infantile, 15 29.5 ARX CDKL5 SCN1A SIK1 SLC25A22
12 west syndrome 28.9 ARX CDKL5 SCN1A SIK1 SLC25A22 TPH1
13 epilepsy 27.2 ARX CDKL5 CSTB EPM2A GABRG2 SCN1A
14 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
15 myoclonic epilepsy of lafora 12.5
16 myoclonic epilepsy, familial infantile 12.4
17 myoclonic epilepsy myopathy sensory ataxia 12.2
18 benign adult familial myoclonic epilepsy 12.1
19 myoclonic epilepsy, juvenile 4 12.1
20 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 12.1
21 epilepsy, myoclonic juvenile 12.1
22 myoclonic epilepsy, juvenile 3 12.0
23 deafness, congenital, and familial myoclonic epilepsy 12.0
24 myoclonic epilepsy, hartung type 11.9
25 ataxia with myoclonic epilepsy and presenile dementia 11.9
26 spastic paraplegia with myoclonic epilepsy 11.9
27 progressive myoclonic epilepsy type 5 11.9
28 myoclonic epilepsy in non-progressive encephalopathies 11.9
29 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.8
30 epilepsy, idiopathic generalized 13 11.7
31 epilepsy, idiopathic generalized 11 11.7
32 epilepsy, idiopathic generalized 9 11.7
33 spastic ataxia 5, autosomal recessive 11.7
34 epilepsy, progressive myoclonic 7 11.7
35 epilepsy, familial adult myoclonic, 2 11.7
36 epilepsy, progressive myoclonic, 4, with or without renal failure 11.7
37 epileptic encephalopathy, early infantile, 3 11.6
38 epileptic encephalopathy, early infantile, 4 11.6
39 epilepsy, progressive myoclonic, 8 11.6
40 epilepsy, progressive myoclonic, 9 11.6
41 progressive myoclonus epilepsy, lafora type 11.6
42 epilepsy, progressive myoclonic, 6 11.5
43 epileptic encephalopathy, early infantile, 16 11.3
44 myoclonic astatic epilepsy 11.3
45 dentatorubral-pallidoluysian atrophy 11.2
46 juvenile absence epilepsy 11.2
47 epilepsy with generalized tonic-clonic seizures 10.3 CSTB SCN1A
48 malignant migrating partial seizures of infancy 10.3 SCN1A SLC25A22
49 myoclonus epilepsy 10.2 ATN1 CSTB EPM2A
50 adolescence-adult electroclinical syndrome 10.0 CSTB GABRG2 SCN1A

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



Diseases related to Early Myoclonic Encephalopathy
Sources

Symptoms & Phenotypes for Early Myoclonic Encephalopathy

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Human phenotypes related to Early Myoclonic Encephalopathy:

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

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 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 EPM2A SCN1A SCN1B CSTB 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 GBA KCND2 SCN1A SCN1B TPH1 ARX
2 nervous system MP:0003631 9.4 AMT ARX ATN1 CDKL5 CSTB EPM2A
Sources

Drugs & Therapeutics for Early Myoclonic Encephalopathy

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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

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Genetic Tests for Early Myoclonic Encephalopathy

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Genetic tests related to Early Myoclonic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Myoclonic Encephalopathy 29 SLC25A22
Sources

Anatomical Context for Early Myoclonic Encephalopathy

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MalaCards organs/tissues related to Early Myoclonic Encephalopathy:

41
Brain
Sources

Publications for Early Myoclonic Encephalopathy

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Articles related to Early Myoclonic Encephalopathy:

(show all 29)
# 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
[The clinical and electroencephalographic characteristics of early myoclonic encephalopathy]. ( 23324144 )
2012
8
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
2012
9
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
10
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
11
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. ( 19922588 )
2010
12
Early myoclonic encephalopathy. ( 19812426 )
2009
13
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
14
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
15
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
16
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
17
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
18
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. ( 16010070 )
2005
19
Topiramate for the treatment of infants with early myoclonic encephalopathy. ( 23649028 )
2003
20
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
21
A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. ( 10761830 )
2000
22
The controversy regarding diagnostic criteria for early myoclonic encephalopathy. ( 9840674 )
1998
23
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. ( 9105663 )
1997
24
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. ( 7476749 )
1995
25
Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. ( 8404728 )
1993
26
Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. ( 8271543 )
1993
27
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
1990
28
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
29
Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. ( 2510534 )
1989
Sources

Variations for Early Myoclonic Encephalopathy

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ClinVar genetic disease variations for Early Myoclonic Encephalopathy:

6
(show top 50) (show all 268)
# 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.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh37 Chromosome 11, 791881: 791881
8 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh38 Chromosome 11, 791881: 791881
9 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh37 Chromosome 11, 791990: 791990
10 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh38 Chromosome 11, 791990: 791990
11 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh37 Chromosome 11, 792666: 792666
12 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh38 Chromosome 11, 792666: 792666
13 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh37 Chromosome 11, 794481: 794481
14 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh38 Chromosome 11, 794481: 794481
15 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh37 Chromosome 11, 792722: 792722
16 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
17 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 11, 792888: 792888
18 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 792888: 792888
19 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh38 Chromosome 7, 120741593: 120741593
20 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh37 Chromosome 7, 120381647: 120381647
21 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh38 Chromosome 7, 120275088: 120275088
22 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh37 Chromosome 7, 119914728: 119914728
23 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh38 Chromosome 7, 120274674: 120274674
24 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh37 Chromosome 7, 119914902: 119914902
25 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh38 Chromosome 7, 120274848: 120274848
26 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh38 Chromosome 7, 120275064: 120275064
27 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh37 Chromosome 7, 119915118: 119915118
28 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh37 Chromosome 7, 119915142: 119915142
29 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh38 Chromosome 7, 120275378: 120275378
30 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh37 Chromosome 7, 119915432: 119915432
31 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh37 Chromosome 7, 119915635: 119915635
32 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh38 Chromosome 7, 120275581: 120275581
33 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 119915664: 119915664
34 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 120275610: 120275610
35 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh38 Chromosome 7, 120742502: 120742502
36 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh37 Chromosome 7, 120382556: 120382556
37 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh38 Chromosome 7, 120745797: 120745797
38 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh37 Chromosome 7, 120385851: 120385851
39 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh37 Chromosome 7, 119915487: 119915487
40 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh38 Chromosome 7, 120275433: 120275433
41 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh38 Chromosome 7, 120745785: 120745785
42 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh37 Chromosome 7, 120385839: 120385839
43 JMJD1C NM_032776.2(JMJD1C): c.5589T> C (p.Cys1863=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 63197466: 63197466
44 JMJD1C NM_032776.2(JMJD1C): c.5589T> C (p.Cys1863=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 64957226: 64957226
45 JMJD1C NM_032776.2(JMJD1C): c.5396T> C (p.Ile1799Thr) single nucleotide variant Uncertain significance rs367650429 GRCh37 Chromosome 10, 64958368: 64958368
46 JMJD1C NM_032776.2(JMJD1C): c.5396T> C (p.Ile1799Thr) single nucleotide variant Uncertain significance rs367650429 GRCh38 Chromosome 10, 63198608: 63198608
47 JMJD1C NM_032776.2(JMJD1C): c.4180A> T (p.Thr1394Ser) single nucleotide variant Likely benign rs139881253 GRCh37 Chromosome 10, 64967249: 64967249
48 JMJD1C NM_032776.2(JMJD1C): c.4180A> T (p.Thr1394Ser) single nucleotide variant Likely benign rs139881253 GRCh38 Chromosome 10, 63207489: 63207489
49 JMJD1C NM_032776.2(JMJD1C): c.3565T> C (p.Leu1189=) single nucleotide variant Likely benign rs372806250 GRCh37 Chromosome 10, 64967864: 64967864
50 JMJD1C NM_032776.2(JMJD1C): c.3565T> C (p.Leu1189=) single nucleotide variant Likely benign rs372806250 GRCh38 Chromosome 10, 63208104: 63208104

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
Sources

Expression for Early Myoclonic Encephalopathy

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

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

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.46 KCND2 SCN1A SCN1B TPH1
Sources

GO Terms for Early Myoclonic Encephalopathy

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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 9.65 GABRG2 KCND2 SCN1A SCN1B SLC25A22
2 regulation of ion transmembrane transport GO:0034765 9.54 KCND2 SCN1A SCN1B
3 regulation of sodium ion transport GO:0002028 9.32 SCN1B SIK1
4 mammary gland alveolus development GO:0060749 9.16 ERBB4 TPH1
5 cardiac muscle cell action potential involved in contraction GO:0086002 8.96 SCN1A SCN1B
6 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 sodium channel activity GO:0005248 8.96 SCN1A SCN1B
3 voltage-gated ion channel activity GO:0005244 8.8 KCND2 SCN1A SCN1B
Sources

Sources for Early Myoclonic Encephalopathy

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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