EEOC
MCID: EPL116
MIFTS: 51

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, 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 Ras signaling pathway and MAPK signaling pathway. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include 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 encephalopathy 10.0
15 radiation proctitis 10.0 KDR VEGFA
16 autism 10.0
17 microvascular complications of diabetes 3 10.0
18 microvascular complications of diabetes 4 10.0
19 microvascular complications of diabetes 6 10.0
20 microvascular complications of diabetes 7 10.0
21 brain injury 10.0
22 traumatic brain injury 10.0
23 multiple chemical sensitivity 10.0
24 overuse syndrome 10.0
25 repetitive motion disorders 10.0
26 cumulative trauma disorders 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 9.9 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 febrile seizures 33 HP:0002373
9 status epilepticus 33 HP:0002133
10 atonic seizures 33 HP:0010819
11 epileptic encephalopathy 33 HP:0200134
12 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Epileptic Encephalopathy, Childhood-Onset:


seizures, absence seizures, myoclonic 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
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3 Dopamine Agents Phase 4
4 N-Methylaspartate Phase 4
5 Excitatory Amino Acid Antagonists Phase 4
6 Antiparkinson Agents Phase 4
7 Neurotransmitter Agents Phase 4
8 Aspartic Acid Phase 4
9 Excitatory Amino Acids 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
Testes, Endothelial

Publications for Epileptic Encephalopathy, Childhood-Onset

Articles related to Epileptic Encephalopathy, Childhood-Onset:

(show top 50) (show all 61)
# Title Authors Year
1
Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation. ( 28762286 )
2018
2
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
3
EEOC challenges some wellness programs. ( 25946787 )
2015
4
eEOC-mediated modulation of endothelial autophagy, senescence, and EnMT in murine diabetic nephropathy. ( 25080521 )
2014
5
Allegation of ethnic minorities from 1993-2008: an Equal Employment Opportunity Commission (EEOC) study. ( 23324723 )
2014
6
Is the EEOC debating the right question concerning "voluntary" wellness programs? ( 24152054 )
2014
7
Transfer as accommodation. EEOC v. United Airlines, Inc., 693 F3d 760 (7th Cir. 2012). ( 25181827 )
2014
8
Angiopoietin-2 modulates eEOC-mediated renoprotection in AKI in a dose-dependent manner. ( 23475469 )
2013
9
An empirically-derived approach for investigating Health Information Technology: the Elementally Entangled Organisational Communication (EEOC) framework. ( 22788698 )
2012
10
New GINA regulations from EEOC. ( 21595381 )
2011
11
EEOC. Dismissal of waitress's HIV discrimination case affirmed. ( 19255978 )
2009
12
A comparison of EEOC closures involving hiring versus other prevalent discrimination issues under the Americans with Disabilities Act. ( 18431545 )
2008
13
Discrimination in hiring under the Americans with Disabilities Act: an overview of the National EEOC ADA Research Project. ( 18446426 )
2008
14
Workplace discrimination and autism spectrum disorders: The National EEOC Americans with Disabilities Act Research project. ( 19029671 )
2008
15
EEOC discrimination suits must be filed within 90 days. ( 16784006 )
2006
16
An overview of the national EEOC ADA research project. ( 16006670 )
2005
17
Workplace discrimination and diabetes: the EEOC Americans with Disabilities Act research project. ( 16006671 )
2005
18
Workplace discrimination and missing limbs: the national EEOC ADA research project. ( 16006673 )
2005
19
Workplace discrimination and HIV/AIDS: the national EEOC ADA research project. ( 16006674 )
2005
20
Workplace discrimination and disfigurement: the national EEOC ADA research project. ( 16006676 )
2005
21
EEOC v. BNSF: the risks and rewards of genetic exceptionalism. ( 15114998 )
2003
22
Power player. Cari M. Dominguez knows diabetes well. As chair of the EEOC, she also knows how to secure your employment rights. ( 15314802 )
2003
23
Diabetes, the Americans with Disabilities Act, and the EEOC. ( 15314803 )
2003
24
Male clerk files EEOC suit for sexual harassment by female RN. ( 12436814 )
2002
25
The EEOC charge priority policy and claimants with psychiatric disabilities. ( 11331799 )
2001
26
Insurance: exclusion of contraception found discriminatory by EEOC. ( 11521259 )
2001
27
EEOC sues Wisconsin employer, claims HIV discrimination. ( 11669011 )
2001
28
CA: Dr. uses sexually offensive language: federal courts deny EEOC complaint. ( 11995108 )
2000
29
Different paths to justice: the ADA, employment, and administrative enforcement by the EEOC and FEPAs. ( 10216925 )
1999
30
EEOC raises the bar. New guidance expands employer responsibility under the ADA. ( 10539188 )
1999
31
Disability discrimination of nurses and the role of the EEOC. ( 10603841 )
1999
32
New EEOC guidance details responsibilities for job accommodation. ( 11366627 )
1999
33
EEOC says temporary workers qualify for ADA protection. Equal Employment Opportunity Commission. ( 11364955 )
1998
34
EEOC raps hospital. Equal Employment Opportunity Commission. ( 11365063 )
1998
35
EEOC sues freight company for inducing worker with HIV to quit. Equal Employment Opportunity Commission. ( 11365311 )
1998
36
EEOC guidance on psychiatric disabilities: many problems, few workable solutions. ( 10173940 )
1997
37
EEOC: benefits application doesn't preclude ADA complaint. Equal Employment Opportunity Commission. ( 11364130 )
1997
38
New EEOC guidance seen as helpful, but not decisive. ( 11364167 )
1997
39
EEOC policy statement aids workers seeking to avoid arbitration. Equal Employment Opportunity Commission. ( 11364672 )
1997
40
EEOC compliance manual for the ADA and genetic discrimination. ( 8741930 )
1996
41
Disclosure of HIV status may be appropriate, EEOC says. Equal Employment Opportunity Commission. ( 11363422 )
1996
42
EEOC claims employer refused reasonable accommodation. Equal Employment Opportunity Commission. ( 11362640 )
1995
43
EEOC sues employer who demanded janitor take HIV test. Equal Employment Opportunity Commission. ( 11362697 )
1995
44
EEOC is making quick work of AIDS job-bias litigation. Equal Employment Opportunity Commission. ( 11362771 )
1995
45
EEOC (Equal Employment Opportunity Commission) AIDS caps rule is challenged. ( 10125224 )
1993
46
Employer health insurance plans and the ADA: new EEOC guidelines will cause collision. ( 10171702 )
1993
47
Equal employment opportunity for individuals with disabilities--EEOC. Final rule. ( 10170776 )
1991
48
Recordkeeping and reporting under Title VII and the ADA--EEOC. Final rule. ( 10170777 )
1991
49
ADEA claimants given an additional 18 months if EEOC failed to act on charges in timely manner. ( 10287802 )
1988
50
EEOC drafting health plan rules. ( 10259371 )
1983

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 342)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD2 NM_001271.3(CHD2): c.5035C> T (p.Arg1679Ter) single nucleotide variant Pathogenic rs797044912 GRCh37 Chromosome 15, 93563370: 93563370
2 CHD2 NM_001271.3(CHD2): c.5035C> T (p.Arg1679Ter) single nucleotide variant Pathogenic rs797044912 GRCh38 Chromosome 15, 93020140: 93020140
3 CHD2 NM_001271.3(CHD2): c.239C> T (p.Pro80Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs186163798 GRCh38 Chromosome 15, 92924497: 92924497
4 CHD2 NM_001271.3(CHD2): c.239C> T (p.Pro80Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs186163798 GRCh37 Chromosome 15, 93467727: 93467727
5 CHD2 NM_001271.3(CHD2): c.1091A> G (p.Asn364Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143043614 GRCh37 Chromosome 15, 93487683: 93487683
6 CHD2 NM_001271.3(CHD2): c.1091A> G (p.Asn364Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143043614 GRCh38 Chromosome 15, 92944453: 92944453
7 CHD2 NM_001271.3(CHD2): c.335C> G (p.Ser112Ter) single nucleotide variant Pathogenic rs864309534 GRCh38 Chromosome 15, 92927284: 92927284
8 CHD2 NM_001271.3(CHD2): c.335C> G (p.Ser112Ter) single nucleotide variant Pathogenic rs864309534 GRCh37 Chromosome 15, 93470514: 93470514
9 CHD2 NM_001271.3(CHD2): c.1450_1451insT (p.Arg485Serfs) insertion Pathogenic rs864309535 GRCh37 Chromosome 15, 93492255: 93492255
10 CHD2 NM_001271.3(CHD2): c.1450_1451insT (p.Arg485Serfs) insertion Pathogenic rs864309535 GRCh38 Chromosome 15, 92949025: 92949025
11 CHD2 NM_001271.3(CHD2): c.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh37 Chromosome 15, 93492307: 93492307
12 CHD2 NM_001271.3(CHD2): c.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh38 Chromosome 15, 92949077: 92949077
13 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh37 Chromosome 15, 93496726: 93496726
14 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh38 Chromosome 15, 92953496: 92953496
15 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh37 Chromosome 15, 93498741: 93498741
16 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh38 Chromosome 15, 92955511: 92955511
17 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh38 Chromosome 15, 92956591: 92956591
18 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh37 Chromosome 15, 93499821: 93499821
19 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh38 Chromosome 15, 92972380: 92972380
20 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh37 Chromosome 15, 93515610: 93515610
21 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh37 Chromosome 15, 93518170: 93518170
22 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh38 Chromosome 15, 92974940: 92974940
23 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh37 Chromosome 15, 93521611: 93521611
24 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh38 Chromosome 15, 92978381: 92978381
25 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs749969667 GRCh38 Chromosome 15, 93002212: 93002212
26 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs749969667 GRCh37 Chromosome 15, 93545442: 93545442
27 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh38 Chromosome 15, 93002272: 93002275
28 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh37 Chromosome 15, 93545502: 93545505
29 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh38 Chromosome 15, 93002295: 93002313
30 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh37 Chromosome 15, 93545525: 93545543
31 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh38 Chromosome 15, 93014723: 93014723
32 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh37 Chromosome 15, 93557953: 93557953
33 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh38 Chromosome 15, 93020014: 93020014
34 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh37 Chromosome 15, 93563244: 93563244
35 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh38 Chromosome 15, 93020026: 93020026
36 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh37 Chromosome 15, 93563256: 93563256
37 CHD2 NM_001271.3(CHD2): c.4930_4931delAG (p.Arg1644Lysfs) deletion Pathogenic rs864309549 GRCh38 Chromosome 15, 93020035: 93020036
38 CHD2 NM_001271.3(CHD2): c.4930_4931delAG (p.Arg1644Lysfs) deletion Pathogenic rs864309549 GRCh37 Chromosome 15, 93563265: 93563266
39 CHD2 NP_001262.3(CHD2): p.Glu966SerfsTer2 protein only Pathogenic
40 CHD2 NP_001262.3(CHD2): p.Leu1591Xfs protein only Pathogenic
41 CHD2 NP_001262.3(CHD2): p.Asn1600Serfs*209 protein only Pathogenic
42 CHD2 NP_001262.3(CHD2): p.Gly1651TrpfsTer16 protein only Pathogenic
43 CHD2 NM_001271.3(CHD2): c.1809delG (p.Thr604Leufs) deletion Pathogenic rs397514739 GRCh37 Chromosome 15, 93498742: 93498742
44 CHD2 NM_001271.3(CHD2): c.1809delG (p.Thr604Leufs) deletion Pathogenic rs397514739 GRCh38 Chromosome 15, 92955512: 92955512
45 CHD2 CHD2, GLU1412GLYFSTER64 undetermined variant Pathogenic
46 CHD2 NM_001271.3(CHD2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs397514740 GRCh37 Chromosome 15, 93470540: 93470540
47 CHD2 NM_001271.3(CHD2): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs397514740 GRCh38 Chromosome 15, 92927310: 92927310
48 CHD2 CHD2, GLY491VALFSTER13 undetermined variant Pathogenic
49 CHD2 CHD2, ARG1644LYSFSTER22 undetermined variant Pathogenic
50 CHD2 CHD2, TRP548ARG undetermined variant 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 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
41 LOVD
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
Content
Loading form....