EIEE8
MCID: EPL038
MIFTS: 38

Epileptic Encephalopathy, Early Infantile, 8 (EIEE8)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 8

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 8:

Name: Epileptic Encephalopathy, Early Infantile, 8 56 73 13
Early Infantile Epileptic Encephalopathy 8 12 29 6 15
Hyperekplexia and Epilepsy 56 36 71
Eiee8 56 73
Encephalopathy, Epileptic, Early Infantile, Type 8 39
Hyperekplexia-Epilepsy Syndrome 58
Startle Disease with Epilepsy 73
Hyperekplexia with Epilepsy 73
Reflex, Startle 43

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Miscellaneous:
onset at birth

Inheritance:
x-linked recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080215
OMIM 56 300607
OMIM Phenotypic Series 56 PS308350
KEGG 36 H02353
ICD10 via Orphanet 33 G25.8
UMLS via Orphanet 72 C1845102
Orphanet 58 ORPHA163985
MedGen 41 C1845102
UMLS 71 C1845102

Summaries for Epileptic Encephalopathy, Early Infantile, 8

OMIM : 56 Early infantile epileptic encephalopathy-8 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 early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (308350) and hereditary hyperekplexia (149400), respectively. (300607)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 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. Affiliated tissues include brain, and related phenotypes are developmental regression and hypertonia

Disease Ontology : 12 An early infantile 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.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 8

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 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 9.9 RAB39B CLIC2
3 mental retardation, x-linked, syndromic 13 9.9 MECP2 GDI1
4 early infantile epileptic encephalopathy 9.6 MECP2 CASK ARHGEF9
5 anemia, nonspherocytic hemolytic, due to g6pd deficiency 9.5 IKBKG CLIC2 CASK
6 lubs x-linked mental retardation syndrome 9.5 MECP2 IRAK1 GDI1
7 rett syndrome 9.4 SOX3 MECP2 GDI1
8 non-syndromic x-linked intellectual disability 9.3 RAB39B MECP2 GDI1 CLIC2
9 brooke-spiegler syndrome 9.2 RAB39B IKBKG

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 8:



Diseases related to Epileptic Encephalopathy, Early Infantile, 8

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 8

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 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:

56
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

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 8:


reflex, abnormal, hyperexplexia

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 8

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 8

Cochrane evidence based reviews: reflex, startle

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 8

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 8:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 8 29 ARHGEF9

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 8

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 8:

40
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 8

Articles related to Epileptic Encephalopathy, Early Infantile, 8:

# Title Authors PMID Year
1
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 6 56
21633362 2011
2
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. 56 6
15215304 2004
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
5
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. 56
17893116 2008
6
Hereditary Hyperekplexia Overview 6
20301437 2007
7
[Epilepsies during the first year of life]. 61
9462971 1997

Variations for Epileptic Encephalopathy, Early Infantile, 8

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 8:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF9 NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)SNV Pathogenic 431121 rs1135401795 X:62893977-62893977 X:63674097-63674097
2 ARHGEF9 NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)SNV Pathogenic 432195 rs1556401714 X:62926208-62926208 X:63706328-63706328
3 ARHGEF9 NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)SNV Pathogenic 545451 rs1556358991 X:62893943-62893943 X:63674063-63674063
4 ARHGEF9 NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)SNV Pathogenic 568396 rs1569458475 X:62893941-62893941 X:63674061-63674061
5 ARHGEF9 NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)SNV Pathogenic 804015 X:62944444-62944444 X:63724564-63724564
6 ARHGEF9 NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)deletion Pathogenic 804241 X:62875389-62875389 X:63655509-63655509
7 ARHGEF9 NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)SNV Pathogenic 813791 X:62863899-62863899 X:63644019-63644019
8 ARHGEF9 NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=)SNV Pathogenic 837954 X:62893918-62893918 X:63674038-63674038
9 ARHGEF9 NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)SNV Pathogenic 11049 rs121918361 X:62944437-62944437 X:63724557-63724557
10 ARHGEF9 NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter)SNV Pathogenic 29968 rs397514460 X:63005022-63005022 X:63785142-63785142
11 ARHGEF9 NM_001353921.2(ARHGEF9):c.1078-3T>GSNV Likely pathogenic 813776 X:62875620-62875620 X:63655740-63655740
12 ARHGEF9 NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)SNV Likely pathogenic 648941 X:62917031-62917031 X:63697151-63697151
13 ARHGEF9 NM_001353921.2(ARHGEF9):c.582+1G>ASNV Likely pathogenic 579150 rs1569476483 X:62917004-62917004 X:63697124-63697124
14 ARHGEF9 NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)SNV Likely pathogenic 495237 rs1556389083 X:62917025-62917025 X:63697145-63697145
15 ARHGEF9 NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)SNV Likely pathogenic 501568 rs1556401730 X:62926209-62926209 X:63706329-63706329
16 ARHGEF9 NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)SNV Conflicting interpretations of pathogenicity 385107 rs150129110 X:62917005-62917005 X:63697125-63697125
17 ARHGEF9 NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)SNV Conflicting interpretations of pathogenicity 434307 rs138198839 X:62926168-62926168 X:63706288-63706288
18 ARHGEF9 NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)SNV Conflicting interpretations of pathogenicity 128451 rs140777637 X:62898360-62898360 X:63678480-63678480
19 ARHGEF9 NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)SNV Conflicting interpretations of pathogenicity 225050 rs869312941 X:62885810-62885810 X:63665930-63665930
20 ARHGEF9 NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)SNV Conflicting interpretations of pathogenicity 285004 rs56375542 X:62875582-62875582 X:63655702-63655702
21 ARHGEF9 NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)SNV Conflicting interpretations of pathogenicity 465080 rs373866956 X:62926189-62926189 X:63706309-63706309
22 ARHGEF9 NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)SNV Uncertain significance 388838 rs782248986 X:62885783-62885783 X:63665903-63665903
23 ARHGEF9 NM_001353921.2(ARHGEF9):c.403-3C>TSNV Uncertain significance 660199 X:62917187-62917187 X:63697307-63697307
24 ARHGEF9 NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu)SNV Uncertain significance 666345 X:62885872-62885872 X:63665992-63665992
25 ARHGEF9 NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val)SNV Uncertain significance 853669 X:62875502-62875502 X:63655622-63655622
26 ARHGEF9 NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=)SNV Uncertain significance 857523 X:62885895-62885895 X:63666015-63666015
27 ARHGEF9 NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)SNV Uncertain significance 844378 X:62917166-62917166 X:63697286-63697286
28 ARHGEF9 NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)SNV Uncertain significance 843287 X:62926221-62926221 X:63706341-63706341
29 ARHGEF9 NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met)SNV Uncertain significance 842147 X:62944591-62944591 X:63724711-63724711
30 ARHGEF9 NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro)SNV Uncertain significance 465077 rs1556301359 X:62858060-62858060 X:63638180-63638180
31 ARHGEF9 NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)SNV Uncertain significance 533663 rs1556301016 X:62858000-62858000 X:63638120-63638120
32 ARHGEF9 NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly)SNV Uncertain significance 533662 rs1556388997 X:62917009-62917009 X:63697129-63697129
33 ARHGEF9 NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter)SNV Uncertain significance 533661 rs1556300769 X:62857944-62857944 X:63638064-63638064
34 ARHGEF9 NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys)SNV Uncertain significance 578611 rs781955551 X:62917136-62917136 X:63697256-63697256
35 ARHGEF9 NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile)SNV Uncertain significance 590007 rs1569451962 X:62885875-62885875 X:63665995-63665995
36 ARHGEF9 NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)SNV Uncertain significance 579449 rs1365914320 X:62858006-62858006 X:63638126-63638126
37 ARHGEF9 NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)SNV Uncertain significance 570360 rs1569441733 X:62875401-62875401 X:63655521-63655521
38 ARHGEF9 NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)SNV Uncertain significance 571820 rs782139620 X:62898368-62898368 X:63678488-63678488
39 ARHGEF9 NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val)SNV Uncertain significance 581455 rs377326713 X:62926286-62926286 X:63706406-63706406
40 ARHGEF9 NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr)SNV Uncertain significance 654805 X:62944546-62944546 X:63724666-63724666
41 ARHGEF9 NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)SNV Uncertain significance 566826 rs1394345886 X:62917145-62917145 X:63697265-63697265
42 ARHGEF9 NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser)SNV Uncertain significance 567411 rs781870482 X:62858078-62858078 X:63638198-63638198
43 ARHGEF9 NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu)SNV Uncertain significance 653302 X:62858047-62858047 X:63638167-63638167
44 ARHGEF9 NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)SNV Uncertain significance 655101 X:62863861-62863861 X:63643981-63643981
45 ARHGEF9 NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His)SNV Uncertain significance 654993 X:62885821-62885821 X:63665941-63665941
46 ARHGEF9 NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro)SNV Uncertain significance 661800 X:62898247-62898247 X:63678367-63678367
47 ARHGEF9 NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)SNV Uncertain significance 664954 X:62898396-62898396 X:63678516-63678516
48 ARHGEF9 NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)SNV Likely benign 589378 rs145815177 X:62857950-62857950 X:63638070-63638070
49 ARHGEF9 NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu)SNV Likely benign 653238 X:62858015-62858015 X:63638135-63638135
50 ARHGEF9 NM_001353921.2(ARHGEF9):c.583-11dupduplication Likely benign 533664 rs782366734 X:62898459-62898460 X:63678579-63678580

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 8:

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

Expression for Epileptic Encephalopathy, Early Infantile, 8

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 8.

Pathways for Epileptic Encephalopathy, Early Infantile, 8

Pathways related to Epileptic Encephalopathy, Early Infantile, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.98 IRAK1 IKBKG
2 10.69 IRAK1 IKBKG
3 10 IRAK1 IKBKG

GO Terms for Epileptic Encephalopathy, Early Infantile, 8

Cellular components related to Epileptic Encephalopathy, Early Infantile, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.8 RAB39B IKBKG CLIC2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 JNK cascade GO:0007254 8.96 IRAK1 IKBKG
2 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 8.62 IRAK1 IKBKG

Sources for Epileptic Encephalopathy, Early Infantile, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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