EIEE45
MCID: EPL174
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 45 (EIEE45)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 45

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

Name: Epileptic Encephalopathy, Early Infantile, 45 58 76 30 6
Eiee45 58 76
Early Infantile Epileptic Encephalopathy 45 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 45:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 45

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Epileptic Encephalopathy, Early Infantile, 45 is GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Beta1 Subunit). Related phenotypes are seizures and ataxia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRB1 gene on chromosome 4p13.

Description from OMIM: 617153

Related Diseases for Epileptic Encephalopathy, Early Infantile, 45

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 45

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 ataxia 33 HP:0001251
3 developmental regression 33 HP:0002376
4 global developmental delay 33 HP:0001263
5 generalized hypotonia 33 HP:0001290
6 hypoplasia of the corpus callosum 33 HP:0002079
7 hypsarrhythmia 33 HP:0002521
8 epileptic encephalopathy 33 HP:0200134
9 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
hypsarrhythmia
epileptic encephalopathy
delayed psychomotor development
more
Head And Neck Eyes:
cortical visual impairment (in 1 of 2 patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617153

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 30 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:

76
# 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.737T> C (p.Phe246Ser) single nucleotide variant Pathogenic rs886039817 GRCh38 Chromosome 4, 47403613: 47403613
3 GABRB1 NM_000812.3(GABRB1): c.860C> T (p.Thr287Ile) single nucleotide variant Pathogenic rs886039818 GRCh38 Chromosome 4, 47406706: 47406706
4 GABRB1 NM_000812.3(GABRB1): c.860C> T (p.Thr287Ile) single nucleotide variant Pathogenic rs886039818 GRCh37 Chromosome 4, 47408723: 47408723
5 GABRB1 NM_000812.3(GABRB1): c.157C> T (p.Arg53Trp) single nucleotide variant Likely pathogenic rs1135401786 GRCh37 Chromosome 4, 47034007: 47034007
6 GABRB1 NM_000812.3(GABRB1): c.157C> T (p.Arg53Trp) single nucleotide variant Likely pathogenic rs1135401786 GRCh38 Chromosome 4, 47031990: 47031990

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
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
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