EIEE74
MCID: EPL239
MIFTS: 18

Epileptic Encephalopathy, Early Infantile, 74 (EIEE74)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 74

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 74:

Name: Epileptic Encephalopathy, Early Infantile, 74 58 6
Eiee74 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life


Classifications:



External Ids:

OMIM 58 618396

Summaries for Epileptic Encephalopathy, Early Infantile, 74

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 74, is also known as eiee74. An important gene associated with Epileptic Encephalopathy, Early Infantile, 74 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit). Affiliated tissues include brain, eye and liver.

Description from OMIM: 618396

Related Diseases for Epileptic Encephalopathy, Early Infantile, 74

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 74

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
roving eye movements

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
absent speech
epileptic encephalopathy
global developmental delay, severe
motor disability
brain imaging usually normal
more

Clinical features from OMIM:

618396

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 74

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 74

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 74

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 74

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 74:

42
Brain, Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 74

Articles related to Epileptic Encephalopathy, Early Infantile, 74:

# Title Authors Year
1
De novo GABRG2 mutations associated with epileptic encephalopathies. ( 27864268 )
2017
2
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )
2013

Variations for Epileptic Encephalopathy, Early Infantile, 74

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 74:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh37 Chromosome 5, 161576159: 161576159
2 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh38 Chromosome 5, 162149153: 162149153
3 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh37 Chromosome 5, 161522557: 161522557
4 GABRG2 NM_000816.3(GABRG2): c.316G> A (p.Ala106Thr) single nucleotide variant Pathogenic/Likely pathogenic rs796052505 GRCh38 Chromosome 5, 162095551: 162095551
5 GABRG2 NM_000816.3(GABRG2): c.844C> T (p.Pro282Ser) single nucleotide variant Pathogenic rs796052508 GRCh37 Chromosome 5, 161569244: 161569244
6 GABRG2 NM_000816.3(GABRG2): c.844C> T (p.Pro282Ser) single nucleotide variant Pathogenic rs796052508 GRCh38 Chromosome 5, 162142238: 162142238

Expression for Epileptic Encephalopathy, Early Infantile, 74

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 74.

Pathways for Epileptic Encephalopathy, Early Infantile, 74

GO Terms for Epileptic Encephalopathy, Early Infantile, 74

Sources for Epileptic Encephalopathy, Early Infantile, 74

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....