MCID: EPL174
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 45

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 45

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 45:

Name: Epileptic Encephalopathy, Early Infantile, 45 53 71 28
Eiee45 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
seizures are refractory
two unrelated patients have been reported (last curated october 2016)


HPO:

31
epileptic encephalopathy, early infantile, 45:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 45

UniProtKB/Swiss-Prot : 71 Epileptic encephalopathy, early infantile, 45: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 45, is also known as eiee45, and has symptoms including seizures, ataxia and global developmental delay. An important gene associated with Epileptic Encephalopathy, Early Infantile, 45 is GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit).

Description from OMIM: 617153

Related Diseases for Epileptic Encephalopathy, Early Infantile, 45

Diseases in the 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, 25
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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 45

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cortical visual impairment (in 1 of 2 patients)

Neurologic Central Nervous System:
epileptic encephalopathy
delayed psychomotor development
psychomotor regression
seizures
hypsarrhythmia
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617153

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 45:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 generalized hypotonia 31 HP:0001290
5 hypoplasia of the corpus callosum 31 HP:0002079
6 developmental regression 31 HP:0002376
7 hypsarrhythmia 31 HP:0002521
8 cortical visual impairment 31 HP:0100704
9 epileptic encephalopathy 31 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 45

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 45

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 45

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 45:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 45 28 GABRB1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 45

Publications for Epileptic Encephalopathy, Early Infantile, 45

Variations for Epileptic Encephalopathy, Early Infantile, 45

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 45:

71
# Symbol AA change Variation ID SNP ID
1 GABRB1 p.Phe246Ser VAR_077104 rs886039817
2 GABRB1 p.Thr287Ile VAR_077105 rs886039818

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 45:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRB1 NM_000812.3(GABRB1): c.737T> C (p.Phe246Ser) single nucleotide variant Pathogenic rs886039817 GRCh37 Chromosome 4, 47405630: 47405630
2 GABRB1 NM_000812.3(GABRB1): c.860C> T (p.Thr287Ile) single nucleotide variant Pathogenic rs886039818 GRCh38 Chromosome 4, 47406706: 47406706
3 GABRB1 NM_000812.3(GABRB1): c.157C> T (p.Arg53Trp) single nucleotide variant Likely pathogenic rs1135401786 GRCh37 Chromosome 4, 47034007: 47034007

Expression for Epileptic Encephalopathy, Early Infantile, 45

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 45.

Pathways for Epileptic Encephalopathy, Early Infantile, 45

GO Terms for Epileptic Encephalopathy, Early Infantile, 45

Sources for Epileptic Encephalopathy, Early Infantile, 45

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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