DEE94
MCID: DVL118
MIFTS: 45

Developmental and Epileptic Encephalopathy 94 (DEE94)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 94

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 94:

Name: Developmental and Epileptic Encephalopathy 94 57
Epileptic Encephalopathy, Childhood-Onset 57 72 36 29 6 70
Eeoc 57 12 72
Childhood Onset Epileptic Encephalopathy 12 15
Epileptic Encephalopathy, Childhood-Onset; Eeoc 57
Develomental and Epileptic Encephalopathy 94 57
Encephalopathy, Epileptic, Childhood-Onset 39
Dee94 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
developmental and epileptic encephalopathy 94:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 94

KEGG : 36 Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity. Intellectual disability and/or autism spectrum disorders are common.

MalaCards based summary : Developmental and Epileptic Encephalopathy 94, also known as epileptic encephalopathy, childhood-onset, is related to west syndrome and chd2-related neurodevelopmental disorders, and has symptoms including seizures, myoclonic seizures and absence seizures. An important gene associated with Developmental and Epileptic Encephalopathy 94 is CHD2 (Chromodomain Helicase DNA Binding Protein 2), and among its related pathways/superpathways is G-protein signaling_RhoA regulation pathway. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, 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.

OMIM® : 57 Developmental and epileptic encephalopathy-94 (DEE94) 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 impaired intellectual development (summary by Carvill et al., 2013). (615369) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 Developmental and Epileptic Encephalopathy 94

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 94
Developmental and Epileptic Encephalopathy 17 Developmental and Epileptic Encephalopathy 18
Developmental and Epileptic Encephalopathy 19 Developmental and Epileptic Encephalopathy 21
Developmental and Epileptic Encephalopathy 23 Developmental and Epileptic Encephalopathy 24
Developmental and Epileptic Encephalopathy 26 Developmental and Epileptic Encephalopathy 27
Developmental and Epileptic Encephalopathy 28 Developmental and Epileptic Encephalopathy 29
Developmental and Epileptic Encephalopathy 30 Developmental and Epileptic Encephalopathy 31
Developmental and Epileptic Encephalopathy 32 Developmental and Epileptic Encephalopathy 33
Developmental and Epileptic Encephalopathy 50 Developmental and Epileptic Encephalopathy 34
Developmental and Epileptic Encephalopathy 35 Developmental and Epileptic Encephalopathy 37
Developmental and Epileptic Encephalopathy 38 Developmental and Epileptic Encephalopathy 40
Developmental and Epileptic Encephalopathy 41 Developmental and Epileptic Encephalopathy 42
Developmental and Epileptic Encephalopathy 43 Developmental and Epileptic Encephalopathy 44
Developmental and Epileptic Encephalopathy 45 Developmental and Epileptic Encephalopathy 46
Developmental and Epileptic Encephalopathy 47 Developmental and Epileptic Encephalopathy 48
Developmental and Epileptic Encephalopathy 49 Developmental and Epileptic Encephalopathy 51
Developmental and Epileptic Encephalopathy 52 Developmental and Epileptic Encephalopathy 53
Developmental and Epileptic Encephalopathy 54 Developmental and Epileptic Encephalopathy 55
Developmental and Epileptic Encephalopathy 56 Developmental and Epileptic Encephalopathy 91
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 92
Developmental and Epileptic Encephalopathy 58 Developmental and Epileptic Encephalopathy 59
Developmental and Epileptic Encephalopathy 60 Developmental and Epileptic Encephalopathy 61
Developmental and Epileptic Encephalopathy 62 Developmental and Epileptic Encephalopathy 63
Developmental and Epileptic Encephalopathy 64 Developmental and Epileptic Encephalopathy 65
Developmental and Epileptic Encephalopathy 93 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89 Developmental and Epileptic Encephalopathy 6b

Diseases related to Developmental and Epileptic Encephalopathy 94 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 west syndrome 29.2 TRIM8 FGF12 CACNA1A
2 chd2-related neurodevelopmental disorders 11.5
3 encephalopathy 10.3
4 epilepsy 10.2
5 tuberous sclerosis 1 10.0
6 cortical dysplasia, complex, with other brain malformations 10 10.0
7 lennox-gastaut syndrome 10.0
8 tuberous sclerosis 10.0
9 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.9 SLC9A7 CACNA1A
10 autism 9.9
11 branchiootic syndrome 1 9.9
12 microvascular complications of diabetes 3 9.9
13 microvascular complications of diabetes 4 9.9
14 microvascular complications of diabetes 6 9.9
15 microvascular complications of diabetes 7 9.9
16 proteinuria, chronic benign 9.9
17 autism spectrum disorder 9.9
18 multiple chemical sensitivity 9.9
19 end stage renal disease 9.9
20 brain injury 9.9
21 cumulative trauma disorders 9.9
22 overuse syndrome 9.9
23 repetitive motion disorders 9.9
24 traumatic brain injury 9.9
25 myasthenic syndrome, congenital, 22 9.8 FGF12 CACNA1A
26 early infantile epileptic encephalopathy 9.4 TRIM8 PLPBP CACNA1A

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 94:



Diseases related to Developmental and Epileptic Encephalopathy 94

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 94

Human phenotypes related to Developmental and Epileptic Encephalopathy 94:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 31 occasional (7.5%) HP:0000992
2 autistic behavior 31 occasional (7.5%) HP:0000729
3 intellectual disability 31 HP:0001249
4 eeg abnormality 31 HP:0002353
5 developmental regression 31 HP:0002376
6 global developmental delay 31 HP:0001263
7 status epilepticus 31 HP:0002133
8 epileptic encephalopathy 31 HP:0200134
9 atonic seizure 31 HP:0010819
10 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
11 generalized myoclonic seizure 31 HP:0002123
12 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
status epilepticus
epileptic encephalopathy
febrile seizures
myoclonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (rare)

Head And Neck Eyes:
photosensitivity (in some patients)

Clinical features from OMIM®:

615369 (Updated 20-May-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 94:


seizures; myoclonic seizures; absence seizures

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 94

Drugs for Developmental and Epileptic Encephalopathy 94 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
4 Dopamine Agents Phase 4
5 Excitatory Amino Acid Antagonists Phase 4
6 Antiparkinson Agents Phase 4
7 Neurotransmitter Agents Phase 4
8 N-Methylaspartate Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 94

Genetic Tests for Developmental and Epileptic Encephalopathy 94

Genetic tests related to Developmental and Epileptic Encephalopathy 94:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 94

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 94:

40
Eye, Liver, Brain, Endothelial, Kidney, Bone

Publications for Developmental and Epileptic Encephalopathy 94

Articles related to Developmental and Epileptic Encephalopathy 94:

(show top 50) (show all 153)
# Title Authors PMID Year
1
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter. 6 57
29740950 2018
2
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 6 57
24207121 2013
3
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6 57
23708187 2013
4
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 57 6
23020937 2012
5
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
6
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. 6
29720203 2018
7
Genomic diagnostics within a medically underserved population: efficacy and implications. 6
28726809 2018
8
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. 6
28074849 2017
9
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
10
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. 6
26754451 2016
11
CHD2 variants are a risk factor for photosensitivity in epilepsy. 6
25783594 2015
12
Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 6
25418537 2014
13
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 6
25262651 2014
14
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. 6
24932903 2014
15
CHD2 mutations in Lennox-Gastaut syndrome. 6
24614520 2014
16
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. 6
22178256 2012
17
Quantitative analysis of 'organization' by feature extraction of the EEG power spectrum. 6
2578359 1985
18
Comparison of the survival outcomes of laparoscopy versus laparotomy in treatment of early-stage ovarian cancer: a systematic review and meta-analysis. 61
33726795 2021
19
Spotlight on oncologic outcomes and prognostic factors of pure endometrioid ovarian carcinoma. 61
33705993 2021
20
Minimally invasive surgical staging for early stage ovarian cancer: A long-term follow up. 61
33573854 2021
21
Is there any therapeutic role of pelvic and para-aortic lymphadenectomy in apparent early stage epithelial ovarian cancer? 61
33168305 2021
22
METTL3 regulates m6A in endometrioid epithelial ovarian cancer independently of METTl14 and WTAP. 61
32869897 2020
23
The employment discrimination experiences of younger and older Americans with cancer under Title I of the Americans with Disabilities Act. 61
32785876 2020
24
New Research on Sexual Orientation and Gender Identity Discrimination: Effect of State Policy on Charges Filed at the EEOC. 61
31020923 2020
25
Examining the effects of perceived pregnancy discrimination on mother and baby health. 61
32614204 2020
26
The Workplace Discrimination Experiences of Individuals with Cancer in the Americans with Disabilities Act Amendments Act Era. 61
31359226 2020
27
Workplace discrimination for persons with hearing loss: Before and after the 2008 ADA Amendments Act. 61
31868710 2020
28
Predictive factors of recurrence in patients with early-stage epithelial ovarian cancer. 61
30698271 2019
29
Adjuvant chemotherapy in patients with stage I endometrioid or clear cell ovarian cancer in the platinum era: a Surveillance, Epidemiology, and End Results Cohort Study, 2000-2013. 61
28950307 2017
30
Ethical violations and discriminatory behavior in the MedPhys Match. 61
28834035 2017
31
Impact of Surgical Route in Influencing the Risk of Lymphatic Complications After Ovarian Cancer Staging. 61
28347880 2017
32
Minimally Invasive Surgical Staging in Early-stage Ovarian Carcinoma: A Systematic Review and Meta-analysis. 61
28223182 2017
33
ADA Title I allegations and the Mining, Quarrying, and Oil/Gas Extraction industry. 61
29154307 2017
34
Concern noted: A descriptive study of editorial expressions of concern in PubMed and PubMed Central. 61
28758029 2017
35
Policies Should Reflect The Changing Law Landscape. 61
29601165 2016
36
Regulations Under the Americans With Disabilities Act; Genetic Information Nondiscrimination Act. Final rule. 61
27192736 2016
37
Genetic Information Nondiscrimination Act. Final rule. 61
27192741 2016
38
The Role of the Polio Program Infrastructure in Response to Ebola Virus Disease Outbreak in Nigeria 2014. 61
26908718 2016
39
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. 61
27249878 2016
40
Long-term safety of fertility sparing surgery in early stage ovarian cancer: comparison to standard radical surgical procedures. 61
25969349 2015
41
EEOC challenges some wellness programs. 61
25946787 2015
42
Fertility sparing surgery in early stage epithelial ovarian cancer. 61
25142621 2014
43
eEOC-mediated modulation of endothelial autophagy, senescence, and EnMT in murine diabetic nephropathy. 61
25080521 2014
44
The role of omentectomy and random peritoneal biopsies as part of comprehensive surgical staging in apparent early-stage epithelial ovarian cancer. 61
24770785 2014
45
ADA perceived disability claims: a decision-tree analysis. 61
23929501 2014
46
Is the EEOC debating the right question concerning "voluntary" wellness programs? 61
24152054 2014
47
Fibrate treatment of eEOCs in murine AKI. 61
24430761 2014
48
Transfer as accommodation. EEOC v. United Airlines, Inc., 693 F3d 760 (7th Cir. 2012). 61
25181827 2014
49
Allegation of ethnic minorities from 1993-2008: an Equal Employment Opportunity Commission (EEOC) study. 61
23324723 2014
50
Angiopoietin-1 treated early endothelial outgrowth cells (eEOCs) are activated in vitro and reduce renal damage in murine acute ischemic kidney injury (iAKI). 61
24144241 2013

Variations for Developmental and Epileptic Encephalopathy 94

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 94:

6 (show top 50) (show all 477)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD2 CHD2, GLY491VALFSTER13 Variation Pathogenic 60713 GRCh37:
GRCh38:
2 CHD2 CHD2, ARG1644LYSFSTER22 Variation Pathogenic 60714 GRCh37:
GRCh38:
3 CHD2 CHD2, TRP548ARG Variation Pathogenic 60715 GRCh37:
GRCh38:
4 CHD2 NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) SNV Pathogenic 92095 rs398122998 GRCh37: 15:93563306-93563306
GRCh38: 15:93020076-93020076
5 CHD2 NM_001271.4(CHD2):c.1810-2A>C SNV Pathogenic 92096 rs398122999 GRCh37: 15:93499687-93499687
GRCh38: 15:92956457-92956457
6 CHD2 NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) Deletion Pathogenic 218392 rs864309543 GRCh37: 15:93545500-93545503
GRCh38: 15:93002270-93002273
7 CHD2 NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) SNV Pathogenic 218398 rs864309547 GRCh37: 15:93563244-93563244
GRCh38: 15:93020014-93020014
8 CHD2 NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) SNV Pathogenic 218399 rs864309548 GRCh37: 15:93563256-93563256
GRCh38: 15:93020026-93020026
9 CHD2 NM_001271.4(CHD2):c.1552del (p.Gln518fs) Deletion Pathogenic 224149 rs869312705 GRCh37: 15:93496635-93496635
GRCh38: 15:92953405-92953405
10 CHD2 NM_001271.3(CHD2):c.3787dupG (p.Val1263Glyfs) Duplication Pathogenic 224140 rs869312877 GRCh37: 15:93540529-93540530
GRCh38: 15:92997299-92997300
11 CHD2 NM_001271.4(CHD2):c.1809+1del Deletion Pathogenic 60710 rs397514739 GRCh37: 15:93498742-93498742
GRCh38: 15:92955512-92955512
12 CHD2 CHD2, GLU1412GLYFSTER64 Variation Pathogenic 60711 GRCh37:
GRCh38:
13 CHD2 NM_001271.4(CHD2):c.879_883del (p.Ser293fs) Deletion Pathogenic 411852 rs1060503517 GRCh37: 15:93486124-93486128
GRCh38: 15:92942894-92942898
14 CHD2 NM_001271.4(CHD2):c.2765dup (p.Glu923fs) Duplication Pathogenic 474379 rs1555442886 GRCh37: 15:93522401-93522402
GRCh38: 15:92979171-92979172
15 CHD2 NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) SNV Pathogenic 541360 rs1555439719 GRCh37: 15:93487673-93487673
GRCh38: 15:92944443-92944443
16 CHD2 NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) Indel Pathogenic 541361 rs1555442889 GRCh37: 15:93522422-93522438
GRCh38: 15:92979192-92979208
17 CHD2 NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) SNV Pathogenic 541362 rs773860345 GRCh37: 15:93528899-93528899
GRCh38: 15:92985669-92985669
18 CHD2 NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) SNV Pathogenic 489275 rs146691368 GRCh37: 15:93515567-93515567
GRCh38: 15:92972337-92972337
19 CHD2 NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter) SNV Pathogenic 548002 rs1555440885 GRCh37: 15:93499762-93499762
GRCh38: 15:92956532-92956532
20 CHD2 NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) SNV Pathogenic 541367 rs1555439714 GRCh37: 15:93487645-93487645
GRCh38: 15:92944415-92944415
21 CHD2 NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) Deletion Pathogenic 569116 rs1567136357 GRCh37: 15:93487725-93487728
GRCh38: 15:92944495-92944498
22 CHD2 NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) Indel Pathogenic 569905 rs1567138270 GRCh37: 15:93492186-93492187
GRCh38: 15:92948956-92948957
23 CHD2 NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) SNV Pathogenic 208725 rs797044912 GRCh37: 15:93563370-93563370
GRCh38: 15:93020140-93020140
24 CHD2 NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) SNV Pathogenic 578850 rs1567159145 GRCh37: 15:93543839-93543839
GRCh38: 15:93000609-93000609
25 CHD2 NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) SNV Pathogenic 579480 rs1567135138 GRCh37: 15:93485098-93485098
GRCh38: 15:92941868-92941868
26 CHD2 NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) SNV Pathogenic 372997 rs1057518128 GRCh37: 15:93470519-93470519
GRCh38: 15:92927289-92927289
27 CHD2 NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) SNV Pathogenic 644061 rs761127171 GRCh37: 15:93563403-93563403
GRCh38: 15:93020173-93020173
28 CHD2 NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) SNV Pathogenic 645522 rs3210462 GRCh37: 15:93545443-93545443
GRCh38: 15:93002213-93002213
29 CHD2 NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) SNV Pathogenic 694745 rs1246923304 GRCh37: 15:93541846-93541846
GRCh38: 15:92998616-92998616
30 CHD2 NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) SNV Pathogenic 803140 rs1596436494 GRCh37: 15:93527680-93527680
GRCh38: 15:92984450-92984450
31 CHD2 NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) SNV Pathogenic 280930 rs767106034 GRCh37: 15:93527707-93527707
GRCh38: 15:92984477-92984477
32 CHD2 NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter) SNV Pathogenic 812180 GRCh37: 15:93486194-93486194
GRCh38: 15:92942964-92942964
33 CHD2 NC_000015.10:g.(?_92939558)_(92944535_?)del Deletion Pathogenic 830630 GRCh37: 15:93482788-93487765
GRCh38:
34 CHD2 NC_000015.10:g.(?_92901218)_(92901319_?)del Deletion Pathogenic 831537 GRCh37: 15:93444448-93444549
GRCh38:
35 CHD2 NC_000015.10:g.(?_92967305)_(93012464_?)del Deletion Pathogenic 831970 GRCh37: 15:93510535-93555694
GRCh38:
36 CHD2 NC_000015.10:g.(?_92901218)_(93040513_?)del Deletion Pathogenic 832822 GRCh37: 15:93444448-93583743
GRCh38:
37 CHD2 NC_000015.10:g.(?_92929010)_(92929111_?)del Deletion Pathogenic 832946 GRCh37: 15:93472240-93472341
GRCh38:
38 CHD2 NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) SNV Pathogenic 835341 GRCh37: 15:93541768-93541768
GRCh38: 15:92998538-92998538
39 CHD2 NM_001271.4(CHD2):c.1541dup (p.Thr516fs) Duplication Pathogenic 849422 GRCh37: 15:93496623-93496624
GRCh38: 15:92953393-92953394
40 CHD2 NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs) Deletion Pathogenic 850311 GRCh37: 15:93527664-93527665
GRCh38: 15:92984434-92984435
41 CHD2 NM_001271.4(CHD2):c.1894dup (p.Thr632fs) Duplication Pathogenic 850653 GRCh37: 15:93499769-93499770
GRCh38: 15:92956539-92956540
42 CHD2 NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter) SNV Pathogenic 864750 GRCh37: 15:93521483-93521483
GRCh38: 15:92978253-92978253
43 CHD2 NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) SNV Pathogenic 863276 GRCh37: 15:93540530-93540530
GRCh38: 15:92997300-92997300
44 CHD2 NM_001271.4(CHD2):c.1895_1896CT[1] (p.Leu633fs) Microsatellite Pathogenic 864189 GRCh37: 15:93499774-93499775
GRCh38: 15:92956544-92956545
45 CHD2 NM_001271.4(CHD2):c.693-2A>G SNV Pathogenic 935425 GRCh37: 15:93485050-93485050
GRCh38: 15:92941820-92941820
46 CHD2 NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter) SNV Pathogenic 938297 GRCh37: 15:93487691-93487691
GRCh38: 15:92944461-92944461
47 CHD2 NM_001271.4(CHD2):c.670C>T (p.Arg224Ter) SNV Pathogenic 940436 GRCh37: 15:93482926-93482926
GRCh38: 15:92939696-92939696
48 CHD2 NM_001271.4(CHD2):c.1719G>A (p.Thr573=) SNV Pathogenic 374747 rs1057519228 GRCh37: 15:93496803-93496803
GRCh38: 15:92953573-92953573
49 CHD2 NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) SNV Pathogenic 521625 rs1555444702 GRCh37: 15:93541780-93541780
GRCh38: 15:92998550-92998550
50 CHD2 NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro) SNV Pathogenic 944804 GRCh37: 15:93541781-93541781
GRCh38: 15:92998551-92998551

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 94:

72
# Symbol AA change Variation ID SNP ID
1 CHD2 p.Trp548Arg VAR_070209 rs864309537
2 CHD2 p.Leu823Pro VAR_070210 rs864309540

Expression for Developmental and Epileptic Encephalopathy 94

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 94.

Pathways for Developmental and Epileptic Encephalopathy 94

Pathways related to Developmental and Epileptic Encephalopathy 94 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 FGF12 CACNA1A BMP5

GO Terms for Developmental and Epileptic Encephalopathy 94

Sources for Developmental and Epileptic Encephalopathy 94

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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