MCID: EPL174
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 45

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 45

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

Name: Epileptic Encephalopathy, Early Infantile, 45 57 75 29 6
Eiee45 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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

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 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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 45

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 hypoplasia of the corpus callosum 32 HP:0002079
6 developmental regression 32 HP:0002376
7 hypsarrhythmia 32 HP:0002521
8 cortical visual impairment 32 HP:0100704
9 epileptic encephalopathy 32 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 29 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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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