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DEE8
MCID: DVL028
MIFTS: 37

Developmental and Epileptic Encephalopathy 8 (DEE8)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Developmental and Epileptic Encephalopathy 8

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MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 8:

Name: Developmental and Epileptic Encephalopathy 8 57 12
Early Infantile Epileptic Encephalopathy 8 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 8 57 73 13
Eiee8 57 12 73
Hyperekplexia and Epilepsy 57 36
Dee8 57 12
Epileptic Encephalopathy, Early Infantile, 8; Eiee8 57
Encephalopathy, Epileptic, Early Infantile, Type 8 39
Hyperekplexia-Epilepsy Syndrome 58
Startle Disease with Epilepsy 73
Hyperekplexia with Epilepsy 73
Reflex, Startle 44

Characteristics:

Orphanet epidemiological data:

58
hyperekplexia-epilepsy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
onset at birth

Inheritance:
x-linked recessive


HPO:

31
developmental and epileptic encephalopathy 8:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Mental diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080215
OMIM® 57 300607
OMIM Phenotypic Series 57 PS308350
KEGG 36 H02353
ICD10 via Orphanet 33 G25.8
UMLS via Orphanet 72 C1845102
Orphanet 58 ORPHA163985
MedGen 41 C1845102
Sources

Summaries for Developmental and Epileptic Encephalopathy 8

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OMIM® : 57 Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively. (300607) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 8, also known as early infantile epileptic encephalopathy 8, is related to xq28 duplication syndrome, int22h1/int22h2 mediated and chromosome xq28 duplication syndrome, and has symptoms including reflex, abnormal and hyperexplexia. An important gene associated with Developmental and Epileptic Encephalopathy 8 is ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9), and among its related pathways/superpathways are p75(NTR)-mediated signaling and Transcription_NF-kB signaling pathway. Related phenotypes are developmental regression and hypertonia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has material basis in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.

KEGG : 36 Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:H00606]. It is a X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9. Collybistin, encoded by ARHGEF9, is a RhoGEF family protein and highly expressed in the developing and adult brain.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 8: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.

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Related Diseases for Developmental and Epileptic Encephalopathy 8

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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 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 57 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 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

Diseases related to Developmental and Epileptic Encephalopathy 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 xq28 duplication syndrome, int22h1/int22h2 mediated 10.0 RAB39B CLIC2
2 chromosome xq28 duplication syndrome 10.0 RAB39B CLIC2
3 mental retardation, x-linked, syndromic 13 9.8 MECP2 GDI1
4 early infantile epileptic encephalopathy 9.6 MECP2 CASK ARHGEF9
5 non-syndromic x-linked intellectual disability 9.5 RAB39B MECP2 GDI1 CLIC2
6 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.4 RAB39B IKBKG CLIC2 CASK
7 gene duplication disease 9.4 RAB39B MECP2 IRAK1 GDI1
8 lubs x-linked mental retardation syndrome 9.4 RAB39B MECP2 IRAK1 GDI1
9 rett syndrome 9.3 SOX3 MECP2 IRAK1 GDI1
10 disease of mental health 8.6 SOX3 RAB39B MECP2 IKBKG GDI1 CASK

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 8:



Diseases related to Developmental and Epileptic Encephalopathy 8
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Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 8

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Human phenotypes related to Developmental and Epileptic Encephalopathy 8:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
2 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
3 focal impaired awareness seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002384
4 epileptic encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0200134
5 exaggerated startle response 58 31 frequent (33%) Frequent (79-30%) HP:0002267
6 hypoplasia of the frontal lobes 58 31 frequent (33%) Frequent (79-30%) HP:0007333
7 eeg with temporal focal spikes 58 31 frequent (33%) Frequent (79-30%) HP:0012018
8 generalized tonic seizure 31 frequent (33%) HP:0010818
9 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
10 intellectual disability, severe 31 HP:0010864
11 intellectual disability, progressive 31 HP:0006887
12 generalized tonic seizures 58 Frequent (79-30%)
13 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hypertonia
exaggerated startle response
mental retardation, severe
seizures, tonic, hyperekplectic
seizures provoked by tactile stimulation or extreme emotion
more

Clinical features from OMIM®:

300607 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 8:


reflex, abnormal, hyperexplexia
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Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 8

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Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 8

Cochrane evidence based reviews: reflex, startle

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Genetic Tests for Developmental and Epileptic Encephalopathy 8

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Genetic tests related to Developmental and Epileptic Encephalopathy 8:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 8 29 ARHGEF9
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Anatomical Context for Developmental and Epileptic Encephalopathy 8

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Publications for Developmental and Epileptic Encephalopathy 8

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Articles related to Developmental and Epileptic Encephalopathy 8:

# Title Authors PMID Year
1
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 6 57
21633362 2011
2
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. 57 6
15215304 2004
3
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. 57
17893116 2008
4
[Epilepsies during the first year of life]. 61
9462971 1997
Sources

Variations for Developmental and Epileptic Encephalopathy 8

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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 8:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF9 NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) SNV Pathogenic 11049 rs121918361 X:62944437-62944437 X:63724557-63724557
2 ARHGEF9 NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) SNV Pathogenic 29968 rs397514460 X:63005022-63005022 X:63785142-63785142
3 ARHGEF9 NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) SNV Pathogenic 431121 rs1135401795 X:62893977-62893977 X:63674097-63674097
4 ARHGEF9 NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) SNV Pathogenic 545451 rs1556358991 X:62893943-62893943 X:63674063-63674063
5 ARHGEF9 NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) SNV Pathogenic 568396 rs1569458475 X:62893941-62893941 X:63674061-63674061
6 ARHGEF9 NM_001353921.2(ARHGEF9):c.582+1G>A SNV Pathogenic 579150 rs1569476483 X:62917004-62917004 X:63697124-63697124
7 ARHGEF9 NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) SNV Pathogenic 804015 rs1602577529 X:62944444-62944444 X:63724564-63724564
8 ARHGEF9 NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) Deletion Pathogenic 804241 rs1602253296 X:62875389-62875389 X:63655509-63655509
9 ARHGEF9 NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter) SNV Pathogenic 813791 X:62863899-62863899 X:63644019-63644019
10 ARHGEF9 NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) SNV Pathogenic 837954 X:62893918-62893918 X:63674038-63674038
11 ARHGEF9 NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) SNV Pathogenic 225050 rs869312941 X:62885810-62885810 X:63665930-63665930
12 ARHGEF9 NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) SNV Likely pathogenic 974873 X:62926165-62926165 X:63706285-63706285
13 ARHGEF9 NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) SNV Likely pathogenic 648941 rs1602446549 X:62917031-62917031 X:63697151-63697151
14 ARHGEF9 NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) SNV Likely pathogenic 501568 X:62926209-62926209 X:63706329-63706329
15 ARHGEF9 NM_001353921.2(ARHGEF9):c.1078-3T>G SNV Likely pathogenic 813776 X:62875620-62875620 X:63655740-63655740
16 ARHGEF9 NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) SNV Likely pathogenic 432195 rs1556401714 X:62926208-62926208 X:63706328-63706328
17 ARHGEF9 NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) SNV Likely pathogenic 495237 rs1556389083 X:62917025-62917025 X:63697145-63697145
18 ARHGEF9 NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter) SNV Uncertain significance 533661 rs1556300769 X:62857944-62857944 X:63638064-63638064
19 ARHGEF9 NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly) SNV Uncertain significance 533662 rs1556388997 X:62917009-62917009 X:63697129-63697129
20 ARHGEF9 NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr) SNV Uncertain significance 533663 rs1556301016 X:62858000-62858000 X:63638120-63638120
21 ARHGEF9 NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) SNV Uncertain significance 388838 rs782248986 X:62885783-62885783 X:63665903-63665903
22 ARHGEF9 NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) SNV Uncertain significance 566826 rs1394345886 X:62917145-62917145 X:63697265-63697265
23 ARHGEF9 NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro) SNV Uncertain significance 465077 rs1556301359 X:62858060-62858060 X:63638180-63638180
24 ARHGEF9 NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) SNV Uncertain significance 385107 rs150129110 X:62917005-62917005 X:63697125-63697125
25 ARHGEF9 NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) SNV Uncertain significance 653302 rs371605184 X:62858047-62858047 X:63638167-63638167
26 ARHGEF9 NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr) SNV Uncertain significance 654805 rs1569491711 X:62944546-62944546 X:63724666-63724666
27 ARHGEF9 NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His) SNV Uncertain significance 654993 rs1556347347 X:62885821-62885821 X:63665941-63665941
28 ARHGEF9 NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=) SNV Uncertain significance 655101 rs1602179094 X:62863861-62863861 X:63643981-63643981
29 ARHGEF9 NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) SNV Uncertain significance 590007 rs1569451962 X:62885875-62885875 X:63665995-63665995
30 ARHGEF9 NM_001353921.2(ARHGEF9):c.403-3C>T SNV Uncertain significance 660199 rs1602447219 X:62917187-62917187 X:63697307-63697307
31 ARHGEF9 NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro) SNV Uncertain significance 661800 rs1602360899 X:62898247-62898247 X:63678367-63678367
32 ARHGEF9 NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) SNV Uncertain significance 664954 rs1384182085 X:62898396-62898396 X:63678516-63678516
33 ARHGEF9 NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) SNV Uncertain significance 666345 rs1602300014 X:62885872-62885872 X:63665992-63665992
34 ARHGEF9 NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val) SNV Uncertain significance 581455 rs377326713 X:62926286-62926286 X:63706406-63706406
35 ARHGEF9 NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu) SNV Uncertain significance 570360 rs1569441733 X:62875401-62875401 X:63655521-63655521
36 ARHGEF9 NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) SNV Uncertain significance 571820 rs782139620 X:62898368-62898368 X:63678488-63678488
37 ARHGEF9 NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys) SNV Uncertain significance 578611 rs781955551 X:62917136-62917136 X:63697256-63697256
38 ARHGEF9 NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met) SNV Uncertain significance 842147 X:62944591-62944591 X:63724711-63724711
39 ARHGEF9 NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp) SNV Uncertain significance 843287 X:62926221-62926221 X:63706341-63706341
40 ARHGEF9 NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) SNV Uncertain significance 844378 X:62917166-62917166 X:63697286-63697286
41 ARHGEF9 NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val) SNV Uncertain significance 853669 X:62875502-62875502 X:63655622-63655622
42 ARHGEF9 NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=) SNV Uncertain significance 857523 X:62885895-62885895 X:63666015-63666015
43 ARHGEF9 NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) SNV Uncertain significance 931474 X:62898383-62898383 X:63678503-63678503
44 ARHGEF9 NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His) SNV Uncertain significance 934069 X:62944450-62944450 X:63724570-63724570
45 ARHGEF9 NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His) SNV Uncertain significance 451050 rs1556300759 X:62857940-62857940 X:63638060-63638060
46 ARHGEF9 NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) SNV Uncertain significance 383721 rs782577519 X:62858009-62858009 X:63638129-63638129
47 ARHGEF9 NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His) SNV Uncertain significance 938279 X:62926279-62926279 X:63706399-63706399
48 ARHGEF9 NM_001353921.2(ARHGEF9):c.31-29588A>G SNV Uncertain significance 939878 X:62974179-62974179 X:63754299-63754299
49 ARHGEF9 NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser) SNV Uncertain significance 287121 rs886044863 X:62926259-62926259 X:63706379-63706379
50 ARHGEF9 NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser) SNV Uncertain significance 947476 X:62944530-62944530 X:63724650-63724650

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 8:

73
# Symbol AA change Variation ID SNP ID
1 ARHGEF9 p.Gly55Ala VAR_028752 rs121918361
2 ARHGEF9 p.Arg290His VAR_072742

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Expression for Developmental and Epileptic Encephalopathy 8

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Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 8.
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Pathways for Developmental and Epileptic Encephalopathy 8

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Pathways related to Developmental and Epileptic Encephalopathy 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
p75(NTR)-mediated signaling 1
Show member pathways
 10.98 IRAK1 IKBKG
2
Transcription_NF-kB signaling pathway 23
10.69 IRAK1 IKBKG
3
EBV LMP1 signaling 1
10 IRAK1 IKBKG
Sources

GO Terms for Developmental and Epileptic Encephalopathy 8

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Cellular components related to Developmental and Epileptic Encephalopathy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.23 RPL35A MECP2 IRAK1 IKBKG GDI1 CLIC2

Biological processes related to Developmental and Epileptic Encephalopathy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 JNK cascade GO:0007254 9.16 IRAK1 IKBKG
2 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 8.96 IRAK1 IKBKG
3 Rab protein signal transduction GO:0032482 8.62 RAB39B GDI1
Sources

Sources for Developmental and Epileptic Encephalopathy 8

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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