EIEE43
MCID: EPL175
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 43 (EIEE43)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 43

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 43:

Name: Epileptic Encephalopathy, Early Infantile, 43 58 76 30 6
Eiee43 58 76
Early Infantile Epileptic Encephalopathy 43 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first year of life (in most patients)


HPO:

33
epileptic encephalopathy, early infantile, 43:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 43

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 43: 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. EIEE43 inheritance is autosomal dominant.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 43, is also known as eiee43. An important gene associated with Epileptic Encephalopathy, Early Infantile, 43 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRB3 gene on chromosome 15q11.

Description from OMIM: 617113

Related Diseases for Epileptic Encephalopathy, Early Infantile, 43

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, 43

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 43:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 global developmental delay 33 HP:0001263
5 dyskinesia 33 HP:0100660
6 generalized hypotonia 33 HP:0001290
7 hyperactivity 33 HP:0000752
8 epileptic encephalopathy 33 HP:0200134

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
dyskinesia
epileptic encephalopathy
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
abnormal behavior

Clinical features from OMIM:

617113

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 43

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 43

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 43

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 43:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 43 30 GABRB3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 43

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 43:

42
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 43

Variations for Epileptic Encephalopathy, Early Infantile, 43

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 43:

76
# Symbol AA change Variation ID SNP ID
1 GABRB3 p.Asp120Asn VAR_077076 rs886037938
2 GABRB3 p.Tyr182Phe VAR_077078 rs886037939
3 GABRB3 p.Gln249Lys VAR_077079 rs886037940
4 GABRB3 p.Leu256Gln VAR_077080
5 GABRB3 p.Ala305Thr VAR_077082 rs886037941
6 GABRB3 p.Leu124Phe VAR_078223 rs105751955
7 GABRB3 p.Ser254Phe VAR_078224 rs105751954
8 GABRB3 p.Thr287Ile VAR_078719

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 43:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRB3 NM_021912.4(GABRB3): c.358G> A (p.Asp120Asn) single nucleotide variant Pathogenic rs886037938 GRCh38 Chromosome 15, 26621417: 26621417
2 GABRB3 NM_021912.4(GABRB3): c.358G> A (p.Asp120Asn) single nucleotide variant Pathogenic rs886037938 GRCh37 Chromosome 15, 26866564: 26866564
3 GABRB3 NM_021912.4(GABRB3): c.545A> T (p.Tyr182Phe) single nucleotide variant Pathogenic rs886037939 GRCh38 Chromosome 15, 26580456: 26580456
4 GABRB3 NM_021912.4(GABRB3): c.545A> T (p.Tyr182Phe) single nucleotide variant Pathogenic rs886037939 GRCh37 Chromosome 15, 26825603: 26825603
5 GABRB3 NM_021912.4(GABRB3): c.745C> A (p.Gln249Lys) single nucleotide variant Pathogenic rs886037940 GRCh38 Chromosome 15, 26567671: 26567671
6 GABRB3 NM_021912.4(GABRB3): c.745C> A (p.Gln249Lys) single nucleotide variant Pathogenic rs886037940 GRCh37 Chromosome 15, 26812818: 26812818
7 GABRB3 NM_021912.4(GABRB3): c.913G> A (p.Ala305Thr) single nucleotide variant Pathogenic rs886037941 GRCh38 Chromosome 15, 26561099: 26561099
8 GABRB3 NM_021912.4(GABRB3): c.913G> A (p.Ala305Thr) single nucleotide variant Pathogenic rs886037941 GRCh37 Chromosome 15, 26806246: 26806246
9 GABRB3 NM_000814.5(GABRB3): c.239T> G (p.Met80Arg) single nucleotide variant Likely pathogenic rs1064794797 GRCh38 Chromosome 15, 26772403: 26772403
10 GABRB3 NM_000814.5(GABRB3): c.239T> G (p.Met80Arg) single nucleotide variant Likely pathogenic rs1064794797 GRCh37 Chromosome 15, 27017550: 27017550

Expression for Epileptic Encephalopathy, Early Infantile, 43

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 43.

Pathways for Epileptic Encephalopathy, Early Infantile, 43

GO Terms for Epileptic Encephalopathy, Early Infantile, 43

Sources for Epileptic Encephalopathy, Early Infantile, 43

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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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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