MCID: EPL174
MIFTS: 16

Epileptic Encephalopathy, Early Infantile, 45

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 45

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

Name: Epileptic Encephalopathy, Early Infantile, 45 54 71 29
Eiee45 71

Characteristics:

OMIM:

54
Miscellaneous:
two unrelated patients have been reported (last curated october 2016)
seizures are refractory
onset in infancy

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 617153
MedGen 40 CN238694
MeSH 42 D013036

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. 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, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 39
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 14
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 36

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 45

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
thin corpus callosum (in 1 of 2 patients)
ataxia
hypsarrhythmia
seizures
psychomotor regression
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:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 45 29

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
id Symbol AA change Variation ID SNP ID
1 GABRB1 p.Phe246Ser VAR_077104
2 GABRB1 p.Thr287Ile VAR_077105

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

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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