EEOC
MCID: EPL116
MIFTS: 52

Epileptic Encephalopathy, Childhood-Onset (EEOC)

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 58 76 30 6 74
Eeoc 58 12 76
Childhood Onset Epileptic Encephalopathy 12 15

Characteristics:

OMIM:

58
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:

33
epileptic encephalopathy, childhood-onset:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Childhood-Onset

OMIM : 58 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 macrophage activation syndrome, and has symptoms including seizures, myoclonic seizures and absence 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 Ras signaling pathway and MAPK signaling pathway. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and endothelial, and related phenotypes are cutaneous photosensitivity and autistic behavior

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 : 76 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 47)
# Related Disease Score Top Affiliating Genes
1 chd2 myoclonic encephalopathy 11.6
2 macrophage activation syndrome 10.3 ANGPT1 ANGPT2
3 chronic myocardial ischemia 10.2 ANGPT1 VEGFA
4 twin-to-twin transfusion syndrome 10.2 ANGPT1 ANGPT2
5 angiodysplasia 10.2 ANGPT2 VEGFA
6 pyogenic granuloma 10.1 ANGPT1 ANGPT2 VEGFA
7 lipodermatosclerosis 10.1 ANGPT1 ANGPT2 VEGFA
8 background diabetic retinopathy 10.1 ANGPT2 VEGFA
9 monoclonal paraproteinemia 10.1 MPO PRTN3
10 microvascular complications of diabetes 1 10.1 ANGPT1 ANGPT2 VEGFA
11 placenta accreta 10.1 ANGPT1 ANGPT2 KDR
12 angiokeratoma circumscriptum 10.1 KDR VEGFA
13 skin hemangioma 10.0 KDR VEGFA
14 radiation proctitis 10.0 KDR VEGFA
15 autism 10.0
16 microvascular complications of diabetes 3 10.0
17 microvascular complications of diabetes 4 10.0
18 microvascular complications of diabetes 6 10.0
19 microvascular complications of diabetes 7 10.0
20 brain injury 10.0
21 traumatic brain injury 10.0
22 multiple chemical sensitivity 10.0
23 overuse syndrome 10.0
24 repetitive motion disorders 10.0
25 cumulative trauma disorders 10.0
26 encephalopathy 10.0
27 anca-associated vasculitis 10.0 ANGPT2 MPO PRTN3
28 breast disease 10.0 ANGPT2 SHBG VEGFA
29 nervous system disease 10.0 CACNA1A PROM1 VEGFA
30 epithelioid hemangioendothelioma 10.0 KDR VEGFA
31 limb ischemia 9.9 ANGPT2 KDR VEGFA
32 placental insufficiency 9.9 ANGPT2 KDR VEGFA
33 exudative vitreoretinopathy 1 9.9 ANGPT2 KDR VEGFA
34 microvascular complications of diabetes 5 9.9 ANGPT2 KDR VEGFA
35 drug-induced lupus erythematosus 9.9 KDR PROM1 VEGFA
36 capillary hemangioma 9.9 KDR VEGFA
37 supratentorial cancer 9.9 KDR PROM1 VEGFA
38 cerebrum cancer 9.9 KDR PROM1 VEGFA
39 leukostasis 9.9 KDR MPO VEGFA
40 reproductive system disease 9.9 ANXA5 SHBG VEGFA
41 rapidly progressive glomerulonephritis 9.9 MPO PRTN3
42 hemangioma 9.8 ANGPT1 ANGPT2 KDR VEGFA
43 pulmonary aspergilloma 9.8 MPO VEGFA
44 endocrine gland cancer 9.7 ANXA5 KDR VEGFA
45 gastrointestinal system cancer 9.5 ANXA5 KDR PROM1 VEGFA
46 large intestine cancer 9.5 ANXA5 KDR PROM1 VEGFA
47 myocardial infarction 9.5 AGT ANGPT1 ANXA5 MPO 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

Human phenotypes related to Epileptic Encephalopathy, Childhood-Onset:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 33 occasional (7.5%) HP:0000992
2 autistic behavior 33 occasional (7.5%) HP:0000729
3 intellectual disability 33 HP:0001249
4 eeg abnormality 33 HP:0002353
5 developmental regression 33 HP:0002376
6 global developmental delay 33 HP:0001263
7 generalized myoclonic seizures 33 HP:0002123
8 epileptic encephalopathy 33 HP:0200134
9 absence seizure 33 HP:0002121
10 febrile seizures 33 HP:0002373
11 status epilepticus 33 HP:0002133
12 atonic seizures 33 HP:0010819

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
epileptic encephalopathy
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

UMLS symptoms related to Epileptic Encephalopathy, Childhood-Onset:


seizures, myoclonic seizures, absence seizures

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 AGT ANGPT1 ANGPT2 BMP5 CHD2 KDR
2 growth/size/body region MP:0005378 10.2 AGT ANGPT1 BMP5 CACNA1A CHD2 KCNQ2
3 immune system MP:0005387 10.18 AGT ANGPT1 ANGPT2 ANXA5 BMP5 CACNA1A
4 homeostasis/metabolism MP:0005376 10.17 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
5 mortality/aging MP:0010768 10.07 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
6 integument MP:0010771 9.91 ANGPT2 CACNA1A CHD2 KDR PNN PPARA
7 liver/biliary system MP:0005370 9.8 AGT BMP5 CHD2 KDR PPARA VEGFA
8 muscle MP:0005369 9.76 AGT ANGPT1 CACNA1A CHD2 KDR MPO
9 respiratory system MP:0005388 9.5 ANGPT2 BMP5 CACNA1A CHD2 KCNQ2 KDR
10 vision/eye MP:0005391 9.23 ANGPT1 ANGPT2 CACNA1A CHD2 KDR PNN

Drugs & Therapeutics for Epileptic Encephalopathy, Childhood-Onset

Drugs for Epileptic Encephalopathy, Childhood-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3 Excitatory Amino Acid Antagonists Phase 4
4 Dopamine Agents Phase 4
5 Aspartic Acid Phase 4
6 Antiparkinson Agents Phase 4
7 N-Methylaspartate Phase 4
8 Excitatory Amino Acids Phase 4
9 Neurotransmitter Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Memantine for Epileptic Encephalopathy Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg

Search 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 30 CHD2

Anatomical Context for Epileptic Encephalopathy, Childhood-Onset

MalaCards organs/tissues related to Epileptic Encephalopathy, Childhood-Onset:

42
Brain, Testes, Endothelial, Skin, Breast, Placenta

Publications for Epileptic Encephalopathy, Childhood-Onset

Articles related to Epileptic Encephalopathy, Childhood-Onset:

(show top 50) (show all 72)
# Title Authors Year
1
New Research on Sexual Orientation and Gender Identity Discrimination: Effect of State Policy on Charges Filed at the EEOC. ( 31020923 )
2019
2
Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. ( 28762286 )
2018
3
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. ( 29740950 )
2018
4
End of Year Legislation; EEOC Guidance on Genetic Information; Paying for Health Insurance Under a Spouse's Plan; No Health Plan Service Provider ERISA Rights When No Assignment; Benefit Dollar Limits in 2016. ( 27249878 )
2016
5
EEOC challenges some wellness programs. ( 25946787 )
2015
6
eEOC-mediated modulation of endothelial autophagy, senescence, and EnMT in murine diabetic nephropathy. ( 25080521 )
2014
7
Allegation of ethnic minorities from 1993-2008: an Equal Employment Opportunity Commission (EEOC) study. ( 23324723 )
2014
8
Is the EEOC debating the right question concerning "voluntary" wellness programs? ( 24152054 )
2014
9
Transfer as accommodation. EEOC v. United Airlines, Inc., 693 F3d 760 (7th Cir. 2012). ( 25181827 )
2014
10
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. ( 24207121 )
2013
11
Angiopoietin-2 modulates eEOC-mediated renoprotection in AKI in a dose-dependent manner. ( 23475469 )
2013
12
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )
2013
13
An empirically-derived approach for investigating Health Information Technology: the Elementally Entangled Organisational Communication (EEOC) framework. ( 22788698 )
2012
14
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. ( 23020937 )
2012
15
New GINA regulations from EEOC. ( 21595381 )
2011
16
EEOC. Dismissal of waitress's HIV discrimination case affirmed. ( 19255978 )
2009
17
A comparison of EEOC closures involving hiring versus other prevalent discrimination issues under the Americans with Disabilities Act. ( 18431545 )
2008
18
Discrimination in hiring under the Americans with Disabilities Act: an overview of the National EEOC ADA Research Project. ( 18446426 )
2008
19
Workplace discrimination and autism spectrum disorders: The National EEOC Americans with Disabilities Act Research project. ( 19029671 )
2008
20
Multiple chemical sensitivity and workplace discrimination: the national EEOC ADA research project. ( 17522460 )
2007
21
EEOC discrimination suits must be filed within 90 days. ( 16784006 )
2006
22
Workplace discrimination and cumulative trauma disorders: the national EEOC ADA research project. ( 16006675 )
2005
23
An overview of the national EEOC ADA research project. ( 16006670 )
2005
24
Workplace discrimination and diabetes: the EEOC Americans with Disabilities Act research project. ( 16006671 )
2005
25
Workplace discrimination, deafness and hearing impairment: the national EEOC ADA research project. ( 16006672 )
2005
26
Workplace discrimination and missing limbs: the national EEOC ADA research project. ( 16006673 )
2005
27
Workplace discrimination and HIV/AIDS: the national EEOC ADA research project. ( 16006674 )
2005
28
Workplace discrimination and disfigurement: the national EEOC ADA research project. ( 16006676 )
2005
29
Workplace discrimination and traumatic brain injury: the national EEOC ADA research project. ( 16006677 )
2005
30
EEOC v. BNSF: the risks and rewards of genetic exceptionalism. ( 15114998 )
2003
31
Power player. Cari M. Dominguez knows diabetes well. As chair of the EEOC, she also knows how to secure your employment rights. ( 15314802 )
2003
32
Diabetes, the Americans with Disabilities Act, and the EEOC. ( 15314803 )
2003
33
Male clerk files EEOC suit for sexual harassment by female RN. ( 12436814 )
2002
34
The EEOC charge priority policy and claimants with psychiatric disabilities. ( 11331799 )
2001
35
Insurance: exclusion of contraception found discriminatory by EEOC. ( 11521259 )
2001
36
EEOC sues Wisconsin employer, claims HIV discrimination. ( 11669011 )
2001
37
CA: Dr. uses sexually offensive language: federal courts deny EEOC complaint. ( 11995108 )
2000
38
Different paths to justice: the ADA, employment, and administrative enforcement by the EEOC and FEPAs. ( 10216925 )
1999
39
EEOC raises the bar. New guidance expands employer responsibility under the ADA. ( 10539188 )
1999
40
Disability discrimination of nurses and the role of the EEOC. ( 10603841 )
1999
41
New EEOC guidance details responsibilities for job accommodation. ( 11366627 )
1999
42
EEOC says temporary workers qualify for ADA protection. Equal Employment Opportunity Commission. ( 11364955 )
1998
43
EEOC raps hospital. Equal Employment Opportunity Commission. ( 11365063 )
1998
44
EEOC sues freight company for inducing worker with HIV to quit. Equal Employment Opportunity Commission. ( 11365311 )
1998
45
EEOC guidance on psychiatric disabilities: many problems, few workable solutions. ( 10173940 )
1997
46
EEOC: benefits application doesn't preclude ADA complaint. Equal Employment Opportunity Commission. ( 11364130 )
1997
47
New EEOC guidance seen as helpful, but not decisive. ( 11364167 )
1997
48
EEOC policy statement aids workers seeking to avoid arbitration. Equal Employment Opportunity Commission. ( 11364672 )
1997
49
EEOC compliance manual for the ADA and genetic discrimination. ( 8741930 )
1996
50
Disclosure of HIV status may be appropriate, EEOC says. Equal Employment Opportunity Commission. ( 11363422 )
1996

Variations for Epileptic Encephalopathy, Childhood-Onset

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

76
# 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 354)
# 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 Likely pathogenic rs397514740 GRCh37 Chromosome 15, 93470540: 93470540
5 CHD2 NM_001271.3(CHD2): c.361C> T (p.Arg121Ter) single nucleotide variant Likely 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.5035C> T (p.Arg1679Ter) single nucleotide variant Pathogenic rs797044912 GRCh37 Chromosome 15, 93563370: 93563370
16 CHD2 NM_001271.3(CHD2): c.5035C> T (p.Arg1679Ter) single nucleotide variant Pathogenic rs797044912 GRCh38 Chromosome 15, 93020140: 93020140
17 CHD2 NM_001271.3(CHD2): c.239C> T (p.Pro80Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs186163798 GRCh38 Chromosome 15, 92924497: 92924497
18 CHD2 NM_001271.3(CHD2): c.239C> T (p.Pro80Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs186163798 GRCh37 Chromosome 15, 93467727: 93467727
19 CHD2 NM_001271.3(CHD2): c.1091A> G (p.Asn364Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143043614 GRCh37 Chromosome 15, 93487683: 93487683
20 CHD2 NM_001271.3(CHD2): c.1091A> G (p.Asn364Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143043614 GRCh38 Chromosome 15, 92944453: 92944453
21 CHD2 NM_001271.3(CHD2): c.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh38 Chromosome 15, 92949077: 92949077
22 CHD2 NM_001271.3(CHD2): c.335C> G (p.Ser112Ter) single nucleotide variant Pathogenic rs864309534 GRCh38 Chromosome 15, 92927284: 92927284
23 CHD2 NM_001271.3(CHD2): c.335C> G (p.Ser112Ter) single nucleotide variant Pathogenic rs864309534 GRCh37 Chromosome 15, 93470514: 93470514
24 CHD2 NM_001271.3(CHD2): c.1450_1451insT (p.Arg485Serfs) insertion Pathogenic rs864309535 GRCh37 Chromosome 15, 93492255: 93492255
25 CHD2 NM_001271.3(CHD2): c.1450_1451insT (p.Arg485Serfs) insertion Pathogenic rs864309535 GRCh38 Chromosome 15, 92949025: 92949025
26 CHD2 NM_001271.3(CHD2): c.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh37 Chromosome 15, 93492307: 93492307
27 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh37 Chromosome 15, 93496726: 93496726
28 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh38 Chromosome 15, 92953496: 92953496
29 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh37 Chromosome 15, 93498741: 93498741
30 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh38 Chromosome 15, 92955511: 92955511
31 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh38 Chromosome 15, 92956591: 92956591
32 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh37 Chromosome 15, 93499821: 93499821
33 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh38 Chromosome 15, 92972380: 92972380
34 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh37 Chromosome 15, 93515610: 93515610
35 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh37 Chromosome 15, 93518170: 93518170
36 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh38 Chromosome 15, 92974940: 92974940
37 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh37 Chromosome 15, 93521611: 93521611
38 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh38 Chromosome 15, 92978381: 92978381
39 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs749969667 GRCh38 Chromosome 15, 93002212: 93002212
40 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs749969667 GRCh37 Chromosome 15, 93545442: 93545442
41 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh38 Chromosome 15, 93002272: 93002275
42 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh37 Chromosome 15, 93545502: 93545505
43 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh38 Chromosome 15, 93002295: 93002313
44 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh37 Chromosome 15, 93545525: 93545543
45 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh38 Chromosome 15, 93014723: 93014723
46 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh37 Chromosome 15, 93557953: 93557953
47 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh38 Chromosome 15, 93020014: 93020014
48 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh37 Chromosome 15, 93563244: 93563244
49 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh38 Chromosome 15, 93020026: 93020026
50 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh37 Chromosome 15, 93563256: 93563256

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 space GO:0005615 9.56 AGT ANGPT1 ANGPT2 BMP5 MPO PROM1
2 extracellular region GO:0005576 9.32 AGT ANGPT1 ANGPT2 ANXA5 BMP5 KDR

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 ANGPT1 ANGPT2 BMP5 KDR PPARA VEGFA
2 negative regulation of apoptotic process GO:0043066 9.88 ANGPT1 ANXA5 KDR MPO VEGFA
3 positive regulation of cell proliferation GO:0008284 9.85 AGT BMP5 KDR PRTN3 VEGFA
4 positive regulation of angiogenesis GO:0045766 9.76 ANGPT2 KDR VEGFA
5 angiogenesis GO:0001525 9.71 ANGPT1 ANGPT2 KDR VEGFA
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 AGT ANGPT1 VEGFA
7 positive regulation of focal adhesion assembly GO:0051894 9.59 KDR VEGFA
8 positive regulation of receptor internalization GO:0002092 9.58 ANGPT1 VEGFA
9 cell migration involved in sprouting angiogenesis GO:0002042 9.57 KDR VEGFA
10 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.56 AGT VEGFA
11 vascular endothelial growth factor signaling pathway GO:0038084 9.55 KDR VEGFA
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 AGT ANGPT1 KDR
13 low-density lipoprotein particle remodeling GO:0034374 9.52 AGT MPO
14 positive regulation of positive chemotaxis GO:0050927 9.51 KDR VEGFA
15 positive regulation of blood vessel endothelial cell migration GO:0043536 9.43 ANGPT1 KDR VEGFA
16 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.32 KDR VEGFA
17 glomerulus vasculature development GO:0072012 9.16 ANGPT1 ANGPT2
18 Tie signaling pathway GO:0048014 8.96 ANGPT1 ANGPT2
19 positive regulation of endothelial cell migration GO:0010595 8.92 AGT ANGPT1 KDR VEGFA
20 multicellular organism development GO:0007275 10.01 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 receptor tyrosine kinase binding GO:0030971 8.8 ANGPT1 ANGPT2 ANXA5

Sources for Epileptic Encephalopathy, Childhood-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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