EEOC
MCID: EPL116
MIFTS: 50

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 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. Affiliated tissues include skin, brain and kidney, and related phenotypes are intellectual disability and eeg abnormality

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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 chd2 myoclonic encephalopathy 11.6
2 pyogenic granuloma 10.1 ANGPT1 ANGPT2 VEGFA
3 lipodermatosclerosis 10.1 ANGPT1 ANGPT2 VEGFA
4 angiokeratoma circumscriptum 10.1 KDR VEGFA
5 microvascular complications of diabetes 1 10.1 ANGPT1 ANGPT2 VEGFA
6 placenta accreta 10.1 ANGPT1 ANGPT2 SERPINE1
7 fibrinolytic defect 10.1 SERPINC1 SERPINE1
8 monoclonal paraproteinemia 10.1 MPO PRTN3
9 limb ischemia 10.0 ANGPT2 KDR VEGFA
10 placental insufficiency 10.0 ANGPT2 KDR VEGFA
11 chronic myocardial ischemia 10.0 ANGPT1 VEGFA
12 exudative vitreoretinopathy 1 10.0 ANGPT2 KDR VEGFA
13 anca-associated vasculitis 10.0 MPO PRTN3
14 leukostasis 10.0 KDR MPO VEGFA
15 drug-induced lupus erythematosus 10.0 KDR PROM1 VEGFA
16 aspirin allergy 10.0 SERPINC1 SERPINE1
17 varicose veins 10.0 SERPINC1 SHBG VEGFA
18 argentine hemorrhagic fever 10.0 SERPINC1 SERPINE1
19 overnutrition 10.0 PPARA SERPINE1 SHBG
20 sticky platelet syndrome 10.0 SERPINC1 SERPINE1
21 acquired metabolic disease 10.0 PPARA SERPINE1 SHBG
22 supratentorial cancer 10.0 KDR PROM1 VEGFA
23 macrophage activation syndrome 10.0 ANGPT1 ANGPT2
24 cerebrum cancer 10.0 KDR PROM1 VEGFA
25 encephalopathy 10.0
26 blue toe syndrome 10.0 SERPINC1 SERPINE1
27 autosomal dominant polycystic kidney disease 10.0 AGT TSC1 VEGFA
28 hemangioma 10.0 ANGPT1 ANGPT2 KDR VEGFA
29 thrombophilia due to activated protein c resistance 10.0 SERPINC1 SERPINE1 SHBG
30 epilepsy 10.0 CACNA1A CHD2 KCNQ2 SHBG TSC1
31 gastrointestinal system cancer 10.0 KDR PROM1 VEGFA
32 autism 10.0
33 microvascular complications of diabetes 3 10.0
34 microvascular complications of diabetes 4 10.0
35 microvascular complications of diabetes 6 10.0
36 microvascular complications of diabetes 7 10.0
37 brain injury 10.0
38 traumatic brain injury 10.0
39 multiple chemical sensitivity 10.0
40 overuse syndrome 10.0
41 repetitive motion disorders 10.0
42 cumulative trauma disorders 10.0
43 ischemic colitis 9.9 SERPINC1 SERPINE1 VEGFA
44 retinal artery occlusion 9.9 SERPINC1 SERPINE1 VEGFA
45 vein disease 9.9 SERPINC1 SERPINE1 VEGFA
46 retinal vein occlusion 9.9 SERPINC1 SERPINE1 VEGFA
47 nervous system disease 9.9 CACNA1A PROM1 VEGFA
48 osteonecrosis 9.9 SERPINC1 SERPINE1 VEGFA
49 peripheral vascular disease 9.9 SERPINC1 SERPINE1 VEGFA
50 livedoid vasculitis 9.9 PRTN3 SERPINC1 SERPINE1

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 intellectual disability 32 HP:0001249
2 eeg abnormality 32 HP:0002353
3 developmental regression 32 HP:0002376
4 global developmental delay 32 HP:0001263
5 generalized myoclonic seizures 32 HP:0002123
6 absence seizures 32 HP:0002121
7 febrile seizures 32 HP:0002373
8 status epilepticus 32 HP:0002133
9 cutaneous photosensitivity 32 occasional (7.5%) HP:0000992
10 autistic behavior 32 occasional (7.5%) HP:0000729
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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 AGT ANGPT1 ANGPT2 BMP5 CHD2 KDR
2 homeostasis/metabolism MP:0005376 10.32 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
3 growth/size/body region MP:0005378 10.31 AGT ANGPT1 BMP5 CACNA1A CHD2 KCNQ2
4 immune system MP:0005387 10.27 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
5 mortality/aging MP:0010768 10.27 AGT ANGPT1 ANGPT2 BMP5 CACNA1A CHD2
6 integument MP:0010771 10.09 ANGPT2 CACNA1A CHD2 KDR PNN PPARA
7 liver/biliary system MP:0005370 10.06 AGT BMP5 CHD2 KDR PPARA SERPINC1
8 muscle MP:0005369 9.97 AGT ANGPT1 CACNA1A CHD2 KDR MPO
9 renal/urinary system MP:0005367 9.86 AGT ANGPT1 BMP5 CHD2 SERPINC1 SERPINE1
10 reproductive system MP:0005389 9.76 AGT BMP5 CACNA1A CHD2 KCNQ2 SERPINC1
11 respiratory system MP:0005388 9.61 ANGPT2 BMP5 CACNA1A CHD2 KCNQ2 KDR
12 vision/eye MP:0005391 9.32 ANGPT1 ANGPT2 CACNA1A CHD2 KDR PNN

Drugs & Therapeutics for Epileptic Encephalopathy, Childhood-Onset

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Memantine for Epileptic Encephalopathy Not yet 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 29 CHD2

Anatomical Context for Epileptic Encephalopathy, Childhood-Onset

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

41
Skin, Brain, Kidney, Breast, Pancreas, Placenta, Testes

Publications for Epileptic Encephalopathy, Childhood-Onset

Articles related to Epileptic Encephalopathy, Childhood-Onset:

(show top 50) (show all 62)
# 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
Allegation of ethnic minorities from 1993-2008: an Equal Employment Opportunity Commission (EEOC) study. ( 23324723 )
2014
5
Is the EEOC debating the right question concerning "voluntary" wellness programs? ( 24152054 )
2014
6
eEOC-mediated modulation of endothelial autophagy, senescence, and EnMT in murine diabetic nephropathy. ( 25080521 )
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
Workplace discrimination and cumulative trauma disorders: the national EEOC ADA research project. ( 16006675 )
2005
17
An overview of the national EEOC ADA research project. ( 16006670 )
2005
18
Workplace discrimination and diabetes: the EEOC Americans with Disabilities Act research project. ( 16006671 )
2005
19
Workplace discrimination and missing limbs: the national EEOC ADA research project. ( 16006673 )
2005
20
Workplace discrimination and HIV/AIDS: the national EEOC ADA research project. ( 16006674 )
2005
21
Workplace discrimination and disfigurement: the national EEOC ADA research project. ( 16006676 )
2005
22
EEOC v. BNSF: the risks and rewards of genetic exceptionalism. ( 15114998 )
2003
23
Power player. Cari M. Dominguez knows diabetes well. As chair of the EEOC, she also knows how to secure your employment rights. ( 15314802 )
2003
24
Diabetes, the Americans with Disabilities Act, and the EEOC. ( 15314803 )
2003
25
Male clerk files EEOC suit for sexual harassment by female RN. ( 12436814 )
2002
26
The EEOC charge priority policy and claimants with psychiatric disabilities. ( 11331799 )
2001
27
Insurance: exclusion of contraception found discriminatory by EEOC. ( 11521259 )
2001
28
EEOC sues Wisconsin employer, claims HIV discrimination. ( 11669011 )
2001
29
CA: Dr. uses sexually offensive language: federal courts deny EEOC complaint. ( 11995108 )
2000
30
Different paths to justice: the ADA, employment, and administrative enforcement by the EEOC and FEPAs. ( 10216925 )
1999
31
EEOC raises the bar. New guidance expands employer responsibility under the ADA. ( 10539188 )
1999
32
Disability discrimination of nurses and the role of the EEOC. ( 10603841 )
1999
33
New EEOC guidance details responsibilities for job accommodation. ( 11366627 )
1999
34
EEOC says temporary workers qualify for ADA protection. Equal Employment Opportunity Commission. ( 11364955 )
1998
35
EEOC raps hospital. Equal Employment Opportunity Commission. ( 11365063 )
1998
36
EEOC sues freight company for inducing worker with HIV to quit. Equal Employment Opportunity Commission. ( 11365311 )
1998
37
EEOC guidance on psychiatric disabilities: many problems, few workable solutions. ( 10173940 )
1997
38
EEOC: benefits application doesn't preclude ADA complaint. Equal Employment Opportunity Commission. ( 11364130 )
1997
39
New EEOC guidance seen as helpful, but not decisive. ( 11364167 )
1997
40
EEOC policy statement aids workers seeking to avoid arbitration. Equal Employment Opportunity Commission. ( 11364672 )
1997
41
EEOC compliance manual for the ADA and genetic discrimination. ( 8741930 )
1996
42
Disclosure of HIV status may be appropriate, EEOC says. Equal Employment Opportunity Commission. ( 11363422 )
1996
43
EEOC claims employer refused reasonable accommodation. Equal Employment Opportunity Commission. ( 11362640 )
1995
44
EEOC sues employer who demanded janitor take HIV test. Equal Employment Opportunity Commission. ( 11362697 )
1995
45
EEOC is making quick work of AIDS job-bias litigation. Equal Employment Opportunity Commission. ( 11362771 )
1995
46
EEOC (Equal Employment Opportunity Commission) AIDS caps rule is challenged. ( 10125224 )
1993
47
Employer health insurance plans and the ADA: new EEOC guidelines will cause collision. ( 10171702 )
1993
48
Equal employment opportunity for individuals with disabilities--EEOC. Final rule. ( 10170776 )
1991
49
Recordkeeping and reporting under Title VII and the ADA--EEOC. Final rule. ( 10170777 )
1991
50
ADEA claimants given an additional 18 months if EEOC failed to act on charges in timely manner. ( 10287802 )
1988

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 338)
# 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.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 NP_001262.3(CHD2): p.Leu1591Xfs protein only Pathogenic
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.1502+1G> A single nucleotide variant Pathogenic rs864309536 GRCh38 Chromosome 15, 92949077: 92949077
28 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh37 Chromosome 15, 93496726: 93496726
29 CHD2 NM_001271.3(CHD2): c.1642T> C (p.Trp548Arg) single nucleotide variant Pathogenic rs864309537 GRCh38 Chromosome 15, 92953496: 92953496
30 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh37 Chromosome 15, 93498741: 93498741
31 CHD2 NM_001271.3(CHD2): c.1808delA (p.Lys603Argfs) deletion Pathogenic rs864309538 GRCh38 Chromosome 15, 92955511: 92955511
32 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh38 Chromosome 15, 92956591: 92956591
33 CHD2 NM_001271.3(CHD2): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs864309539 GRCh37 Chromosome 15, 93499821: 93499821
34 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh38 Chromosome 15, 92972380: 92972380
35 CHD2 NM_001271.3(CHD2): c.2468T> C (p.Leu823Pro) single nucleotide variant Pathogenic rs864309540 GRCh37 Chromosome 15, 93515610: 93515610
36 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh37 Chromosome 15, 93518170: 93518170
37 CHD2 NM_001271.3(CHD2): c.2567A> G (p.Asp856Gly) single nucleotide variant Pathogenic rs864309541 GRCh38 Chromosome 15, 92974940: 92974940
38 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh37 Chromosome 15, 93521611: 93521611
39 CHD2 NM_001271.3(CHD2): c.2725C> T (p.Gln909Ter) single nucleotide variant Pathogenic rs864309542 GRCh38 Chromosome 15, 92978381: 92978381
40 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs864309546 GRCh38 Chromosome 15, 93002212: 93002212
41 CHD2 NM_001271.3(CHD2): c.4173dupA (p.Gln1392Thrfs) duplication Pathogenic rs864309546 GRCh37 Chromosome 15, 93545442: 93545442
42 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh38 Chromosome 15, 93002272: 93002275
43 CHD2 NM_001271.3(CHD2): c.4233_4236delAGAA (p.Glu1412Glyfs) deletion Pathogenic rs864309543 GRCh37 Chromosome 15, 93545502: 93545505
44 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh38 Chromosome 15, 93002295: 93002313
45 CHD2 NM_001271.3(CHD2): c.4256_4274del19 (p.Lys1419Argfs) deletion Pathogenic rs864309544 GRCh37 Chromosome 15, 93545525: 93545543
46 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh38 Chromosome 15, 93014723: 93014723
47 CHD2 NM_001271.3(CHD2): c.4720delG (p.Gly1575Valfs) deletion Pathogenic rs864309545 GRCh37 Chromosome 15, 93557953: 93557953
48 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh38 Chromosome 15, 93020014: 93020014
49 CHD2 NM_001271.3(CHD2): c.4909C> T (p.Arg1637Ter) single nucleotide variant Pathogenic rs864309547 GRCh37 Chromosome 15, 93563244: 93563244
50 CHD2 NM_001271.3(CHD2): c.4921C> T (p.Gln1641Ter) single nucleotide variant Pathogenic rs864309548 GRCh38 Chromosome 15, 93020026: 93020026

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 plasma membrane GO:0005886 9.93 ANGPT1 ANGPT2 CACNA1A KCNQ2 KDR PNN
2 extracellular exosome GO:0070062 9.86 AGT ANGPT1 MPO PROM1 PRTN3 SERPINC1
3 extracellular space GO:0005615 9.65 AGT ANGPT1 ANGPT2 BMP5 MPO PROM1
4 extracellular region GO:0005576 9.36 AGT ANGPT1 ANGPT2 BMP5 KDR MPO

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.92 AGT BMP5 KDR PRTN3 VEGFA
2 kidney development GO:0001822 9.74 AGT TSC1 VEGFA
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.69 AGT ANGPT1 VEGFA
4 positive regulation of angiogenesis GO:0045766 9.67 ANGPT2 KDR SERPINE1 VEGFA
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 AGT ANGPT1 KDR
6 positive regulation of blood vessel endothelial cell migration GO:0043536 9.61 ANGPT1 KDR VEGFA
7 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 AGT VEGFA
8 vascular endothelial growth factor signaling pathway GO:0038084 9.56 KDR VEGFA
9 low-density lipoprotein particle remodeling GO:0034374 9.54 AGT MPO
10 negative regulation of endothelial cell apoptotic process GO:2000352 9.5 ANGPT1 KDR SERPINE1
11 positive regulation of positive chemotaxis GO:0050927 9.49 KDR VEGFA
12 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.46 KDR VEGFA
13 glomerulus vasculature development GO:0072012 9.4 ANGPT1 ANGPT2
14 angiogenesis GO:0001525 9.35 ANGPT1 ANGPT2 KDR SERPINE1 VEGFA
15 positive regulation of focal adhesion assembly GO:0051894 9.33 KDR TSC1 VEGFA
16 Tie signaling pathway GO:0048014 9.26 ANGPT1 ANGPT2
17 positive regulation of endothelial cell migration GO:0010595 8.92 AGT ANGPT1 KDR VEGFA
18 cell differentiation GO:0030154 10.02 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
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
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