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 57 74 29 6
Eiee45 57 74
Early Infantile Epileptic Encephalopathy 45 12

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:



External Ids:

Disease Ontology 12 DOID:0080428
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 45

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 617153 PS308350

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 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 45

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 developmental regression 32 HP:0002376
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 epileptic encephalopathy 32 HP:0200134
7 hypsarrhythmia 32 HP:0002521
8 hypoplasia of the corpus callosum 32 HP:0002079
9 cerebral visual impairment 32 HP:0100704

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
epileptic encephalopathy
hypsarrhythmia
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 29 GABRB1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 45

Publications for Epileptic Encephalopathy, Early Infantile, 45

Articles related to Epileptic Encephalopathy, Early Infantile, 45:

# Title Authors PMID Year
1
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. 8 71
27273810 2016
2
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 8 71
26950270 2016
3
De novo mutations in epileptic encephalopathies. 8 71
23934111 2013
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 45

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GABRB1 NM_000812.4(GABRB1): c.737T> C (p.Phe246Ser) single nucleotide variant Pathogenic rs886039817 4:47405630-47405630 4:47403613-47403613
2 GABRB1 NM_000812.4(GABRB1): c.860C> T (p.Thr287Ile) single nucleotide variant Pathogenic rs886039818 4:47408723-47408723 4:47406706-47406706
3 GABRB1 NM_000812.4(GABRB1): c.157C> T (p.Arg53Trp) single nucleotide variant Likely pathogenic rs1135401786 4:47034007-47034007 4:47031990-47031990
4 GABRB1 NM_000812.4(GABRB1): c.307C> T (p.Pro103Ser) single nucleotide variant Uncertain significance 4:47163332-47163332 4:47161315-47161315

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

74
# Symbol AA change Variation ID SNP ID
1 GABRB1 p.Phe246Ser VAR_077104 rs886039817
2 GABRB1 p.Thr287Ile VAR_077105 rs886039818

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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