MCID: EPL116
MIFTS: 39

Epileptic Encephalopathy, Childhood-Onset

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epileptic Encephalopathy, Childhood-Onset

MalaCards integrated aliases for Epileptic Encephalopathy, Childhood-Onset:

Name: Epileptic Encephalopathy, Childhood-Onset 57 75 29 6 73
Eeoc 57 12 75
Childhood Onset Epileptic Encephalopathy 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases have occurred de novo
onset between ages 1 to 3 years
patients can have multiple seizure types


HPO:

32
epileptic encephalopathy, childhood-onset:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Childhood-Onset

OMIM : 57 Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013). (615369)

MalaCards based summary : Epileptic Encephalopathy, Childhood-Onset, also known as eeoc, is related to chd2 myoclonic encephalopathy and pyogenic granuloma, and has symptoms including seizures, absence seizures and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Childhood-Onset is CHD2 (Chromodomain Helicase DNA Binding Protein 2), and among its related pathways/superpathways are MAPK signaling pathway and HIF-1 signaling pathway. Related phenotypes are autistic behavior and cutaneous photosensitivity

Disease Ontology : 12 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, childhood-onset: A severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.

Related Diseases for Epileptic Encephalopathy, Childhood-Onset

Diseases in the Epileptic Encephalopathy, Childhood-Onset family:

Epileptic Encephalopathy, Infantile or Early Childhood, 1 Epileptic Encephalopathy, Infantile or Early Childhood, 2
Epileptic Encephalopathy, Infantile or Early Childhood, 3

Diseases related to Epileptic Encephalopathy, Childhood-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 chd2 myoclonic encephalopathy 11.4
2 pyogenic granuloma 10.4 ANGPT1 ANGPT2 VEGFA
3 lipodermatosclerosis 10.4 ANGPT1 ANGPT2 VEGFA
4 angiokeratoma circumscriptum 10.3 KDR VEGFA
5 placenta accreta 10.2 ANGPT1 ANGPT2 SERPINE1
6 fibrinolytic defect 10.2 SERPINC1 SERPINE1
7 central nervous system disease 10.2 CACNA1A KCNQ2 PROM1
8 limb ischemia 10.1 ANGPT2 KDR VEGFA
9 placental insufficiency 10.1 ANGPT2 KDR VEGFA
10 retinal vascular disease 10.1 ANGPT2 KDR VEGFA
11 exudative vitreoretinopathy 1 10.1 ANGPT2 KDR VEGFA
12 leukostasis 10.0 KDR MPO VEGFA
13 monoclonal paraproteinemia 10.0 MPO PRTN3
14 argentine hemorrhagic fever 10.0 SERPINC1 SERPINE1
15 varicose veins 10.0 SERPINC1 SHBG VEGFA
16 hemangioma 10.0 ANGPT2 KDR VEGFA
17 sticky platelet syndrome 10.0 SERPINC1 SERPINE1
18 acquired metabolic disease 10.0 PPARA SERPINE1 SHBG
19 acute hemorrhagic leukoencephalitis 9.9 KDR SERPINC1 VEGFA
20 thrombophilia due to activated protein c resistance 9.9 SERPINC1 SERPINE1 SHBG
21 anca-associated vasculitis 9.9 MPO PRTN3
22 blue toe syndrome 9.9 SERPINC1 SERPINE1
23 intermittent claudication 9.8 SERPINC1 SERPINE1 VEGFA
24 retinal vein occlusion 9.8 SERPINC1 SERPINE1 VEGFA
25 osteonecrosis 9.7 SERPINC1 SERPINE1 VEGFA
26 nervous system disease 9.7 CACNA1A PROM1 VEGFA
27 peripheral vascular disease 9.7 SERPINC1 SERPINE1 VEGFA
28 microvascular complications of diabetes 5 9.6 ANGPT2 KDR SERPINE1 VEGFA
29 autosomal dominant polycystic kidney disease 9.6 AGT TSC1 VEGFA
30 arteries, anomalies of 9.5 AGT SERPINC1 SERPINE1 VEGFA
31 pulmonary hypertension 9.3 ANGPT1 SERPINC1 SERPINE1 VEGFA
32 vascular disease 9.1 ANGPT1 MPO SERPINC1 SERPINE1 VEGFA
33 pre-eclampsia 9.0 AGT KDR SERPINC1 SERPINE1 VEGFA
34 myocardial infarction 8.8 AGT ANGPT1 MPO SERPINC1 SERPINE1 VEGFA

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Childhood-Onset:



Diseases related to Epileptic Encephalopathy, Childhood-Onset

Symptoms & Phenotypes for Epileptic Encephalopathy, Childhood-Onset

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
absence seizures
febrile seizures
status epilepticus
atonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (rare)

Head And Neck Eyes:
photosensitivity (in some patients)


Clinical features from OMIM:

615369

Human phenotypes related to Epileptic Encephalopathy, Childhood-Onset:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 autistic behavior 32 occasional (7.5%) HP:0000729
2 cutaneous photosensitivity 32 occasional (7.5%) HP:0000992
3 intellectual disability 32 HP:0001249
4 global developmental delay 32 HP:0001263
5 absence seizures 32 HP:0002121
6 generalized myoclonic seizures 32 HP:0002123
7 status epilepticus 32 HP:0002133
8 eeg abnormality 32 HP:0002353
9 febrile seizures 32 HP:0002373
10 developmental regression 32 HP:0002376
11 atonic seizures 32 HP:0010819
12 epileptic encephalopathy 32 HP:0200134

UMLS symptoms related to Epileptic Encephalopathy, Childhood-Onset:


seizures, absence seizures, myoclonic seizures

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Childhood-Onset:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 PNN PPARA PROM1 SERPINC1 SERPINE1 TSC1
2 homeostasis/metabolism MP:0005376 10.35 ANGPT2 BMP5 CACNA1A CHD2 CLN3 KDR
3 growth/size/body region MP:0005378 10.31 CHD2 KCNQ2 KDR PNN PPARA PROM1
4 immune system MP:0005387 10.3 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
5 mortality/aging MP:0010768 10.3 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
6 behavior/neurological MP:0005386 10.22 AGT BMP5 CACNA1A CHD2 CLN3 KCNQ2
7 liver/biliary system MP:0005370 10.1 AGT BMP5 CHD2 CLN3 KDR PPARA
8 integument MP:0010771 10.09 PNN PPARA SERPINE1 TSC1 VEGFA ANGPT2
9 muscle MP:0005369 9.97 AGT ANGPT1 CACNA1A CHD2 KDR MPO
10 renal/urinary system MP:0005367 9.91 AGT ANGPT1 BMP5 CHD2 CLN3 SERPINC1
11 reproductive system MP:0005389 9.81 AGT BMP5 CACNA1A CHD2 CLN3 KCNQ2
12 respiratory system MP:0005388 9.61 SERPINE1 TSC1 VEGFA ANGPT2 BMP5 CACNA1A
13 vision/eye MP:0005391 9.36 CLN3 KDR PNN PROM1 SERPINC1 TSC1

Drugs & Therapeutics for Epileptic Encephalopathy, Childhood-Onset

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Childhood-Onset

Genetic Tests for Epileptic Encephalopathy, Childhood-Onset

Genetic tests related to Epileptic Encephalopathy, Childhood-Onset:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Childhood-Onset 29 CHD2

Anatomical Context for Epileptic Encephalopathy, Childhood-Onset

Publications for Epileptic Encephalopathy, Childhood-Onset

Variations for Epileptic Encephalopathy, Childhood-Onset

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Childhood-Onset:

75
# Symbol AA change Variation ID SNP ID
1 CHD2 p.Trp548Arg VAR_070209 rs864309537
2 CHD2 p.Leu823Pro VAR_070210 rs864309540

ClinVar genetic disease variations for Epileptic Encephalopathy, Childhood-Onset:

6
(show top 50) (show all 276)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD2 NM_001271.3(CHD2): c.1809delG (p.Thr604Leufs) deletion Pathogenic rs397514739 GRCh37 Chromosome 15, 93498742: 93498742
2 CHD2 NM_001271.3(CHD2): c.1809delG (p.Thr604Leufs) deletion Pathogenic rs397514739 GRCh38 Chromosome 15, 92955512: 92955512
3 CHD2 CHD2, GLU1412GLYFSTER64 undetermined variant Pathogenic
4 CHD2 NM_001271.3(CHD2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs397514740 GRCh37 Chromosome 15, 93470540: 93470540
5 CHD2 NM_001271.3(CHD2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs397514740 GRCh38 Chromosome 15, 92927310: 92927310
6 CHD2 CHD2, GLY491VALFSTER13 undetermined variant Pathogenic
7 CHD2 CHD2, ARG1644LYSFSTER22 undetermined variant Pathogenic
8 CHD2 CHD2, TRP548ARG undetermined variant Pathogenic
9 CHD2 NM_001271.3(CHD2): c.4971G> A (p.Trp1657Ter) single nucleotide variant Pathogenic rs398122998 GRCh37 Chromosome 15, 93563306: 93563306
10 CHD2 NM_001271.3(CHD2): c.4971G> A (p.Trp1657Ter) single nucleotide variant Pathogenic rs398122998 GRCh38 Chromosome 15, 93020076: 93020076
11 CHD2 NM_001271.3(CHD2): c.1810-2A> C single nucleotide variant Pathogenic rs398122999 GRCh37 Chromosome 15, 93499687: 93499687
12 CHD2 NM_001271.3(CHD2): c.1810-2A> C single nucleotide variant Pathogenic rs398122999 GRCh38 Chromosome 15, 92956457: 92956457
13 CHD2 NM_001271.3(CHD2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs398123000 GRCh37 Chromosome 15, 93492200: 93492200
14 CHD2 NM_001271.3(CHD2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs398123000 GRCh38 Chromosome 15, 92948970: 92948970
15 CHD2 NM_001271.3(CHD2): c.239C> T (p.Pro80Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs186163798 GRCh38 Chromosome 15, 92924497: 92924497
16 CHD2 NM_001271.3(CHD2): c.239C> T (p.Pro80Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs186163798 GRCh37 Chromosome 15, 93467727: 93467727
17 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh37 Chromosome 15, 93498741: 93498741
18 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh38 Chromosome 15, 92955511: 92955511
19 CHD2 NM_001271.3(CHD2): c.335C> G (p.Ser112Ter) single nucleotide variant Pathogenic rs864309534 GRCh38 Chromosome 15, 92927284: 92927284
20 CHD2 NM_001271.3(CHD2): c.335C> G (p.Ser112Ter) single nucleotide variant Pathogenic rs864309534 GRCh37 Chromosome 15, 93470514: 93470514
21 CHD2 NM_001271.3(CHD2): c.1450_1451insT (p.Arg485Serfs) insertion Pathogenic rs864309535 GRCh37 Chromosome 15, 93492255: 93492255
22 CHD2 NM_001271.3(CHD2): c.1450_1451insT (p.Arg485Serfs) insertion Pathogenic rs864309535 GRCh38 Chromosome 15, 92949025: 92949025
23 CHD2 NM_001271.3(CHD2): c.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh37 Chromosome 15, 93492307: 93492307
24 CHD2 NM_001271.3(CHD2): c.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh38 Chromosome 15, 92949077: 92949077
25 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh37 Chromosome 15, 93496726: 93496726
26 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh38 Chromosome 15, 92953496: 92953496
27 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh38 Chromosome 15, 92956591: 92956591
28 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh37 Chromosome 15, 93499821: 93499821
29 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh38 Chromosome 15, 92972380: 92972380
30 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh37 Chromosome 15, 93515610: 93515610
31 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh37 Chromosome 15, 93518170: 93518170
32 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh38 Chromosome 15, 92974940: 92974940
33 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh37 Chromosome 15, 93521611: 93521611
34 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh38 Chromosome 15, 92978381: 92978381
35 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs864309546 GRCh38 Chromosome 15, 93002212: 93002212
36 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs864309546 GRCh37 Chromosome 15, 93545442: 93545442
37 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh38 Chromosome 15, 93002272: 93002275
38 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh37 Chromosome 15, 93545502: 93545505
39 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh38 Chromosome 15, 93002295: 93002313
40 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh37 Chromosome 15, 93545525: 93545543
41 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh38 Chromosome 15, 93014723: 93014723
42 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh37 Chromosome 15, 93557953: 93557953
43 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh38 Chromosome 15, 93020014: 93020014
44 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh37 Chromosome 15, 93563244: 93563244
45 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh38 Chromosome 15, 93020026: 93020026
46 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh37 Chromosome 15, 93563256: 93563256
47 CHD2 NM_001271.3(CHD2): c.4930_4931delAG (p.Arg1644Lysfs) deletion Pathogenic rs864309549 GRCh38 Chromosome 15, 93020035: 93020036
48 CHD2 NM_001271.3(CHD2): c.4930_4931delAG (p.Arg1644Lysfs) deletion Pathogenic rs864309549 GRCh37 Chromosome 15, 93563265: 93563266
49 CHD2 NP_001262.3(CHD2): p.Glu966SerfsTer2 protein only Pathogenic
50 CHD2 NP_001262.3(CHD2): p.Leu1591Xfs protein only Pathogenic

Expression for Epileptic Encephalopathy, Childhood-Onset

Search GEO for disease gene expression data for Epileptic Encephalopathy, Childhood-Onset.

Pathways for Epileptic Encephalopathy, Childhood-Onset

GO Terms for Epileptic Encephalopathy, Childhood-Onset

Cellular components related to Epileptic Encephalopathy, Childhood-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 AGT ANGPT1 ANGPT2 BMP5 KDR MPO
2 membrane raft GO:0045121 9.46 ANGPT1 CLN3 KDR PRTN3
3 extracellular space GO:0005615 9.32 AGT ANGPT1 ANGPT2 BMP5 MPO PROM1
4 plasma membrane GO:0005886 10.03 ANGPT1 ANGPT2 CACNA1A CLN3 KCNQ2 KDR

Biological processes related to Epileptic Encephalopathy, Childhood-Onset according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.96 ANGPT1 CLN3 KDR MPO VEGFA
2 positive regulation of cell proliferation GO:0008284 9.93 AGT BMP5 KDR PRTN3 VEGFA
3 kidney development GO:0001822 9.74 AGT TSC1 VEGFA
4 positive regulation of angiogenesis GO:0045766 9.71 ANGPT2 KDR SERPINE1 VEGFA
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.69 AGT ANGPT1 VEGFA
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 AGT ANGPT1 KDR
7 positive regulation of blood vessel endothelial cell migration GO:0043536 9.63 ANGPT1 KDR VEGFA
8 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 AGT VEGFA
9 cell migration involved in sprouting angiogenesis GO:0002042 9.55 KDR VEGFA
10 angiogenesis GO:0001525 9.55 ANGPT1 ANGPT2 KDR SERPINE1 VEGFA
11 low-density lipoprotein particle remodeling GO:0034374 9.52 AGT MPO
12 negative regulation of endothelial cell apoptotic process GO:2000352 9.5 ANGPT1 KDR SERPINE1
13 positive regulation of positive chemotaxis GO:0050927 9.49 KDR VEGFA
14 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.43 KDR VEGFA
15 glomerulus vasculature development GO:0072012 9.37 ANGPT1 ANGPT2
16 Tie signaling pathway GO:0048014 9.26 ANGPT1 ANGPT2
17 positive regulation of focal adhesion assembly GO:0051894 9.13 KDR TSC1 VEGFA
18 positive regulation of endothelial cell migration GO:0010595 8.92 AGT ANGPT1 KDR VEGFA
19 cell differentiation GO:0030154 10.05 ANGPT1 ANGPT2 BMP5 KDR PPARA VEGFA

Molecular functions related to Epileptic Encephalopathy, Childhood-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 8.8 AGT SERPINC1 SERPINE1

Sources for Epileptic Encephalopathy, Childhood-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
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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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