MCID: EPL175
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 43

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, 43

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

Name: Epileptic Encephalopathy, Early Infantile, 43 57 75 29 6
Eiee43 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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 hyperactivity and intellectual disability

Description from OMIM: 617113

Related Diseases for Epileptic Encephalopathy, Early Infantile, 43

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, 43

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperactivity 32 HP:0000752
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 global developmental delay 32 HP:0001263
6 generalized hypotonia 32 HP:0001290
7 dyskinesia 32 HP:0100660
8 epileptic encephalopathy 32 HP:0200134

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 29 GABRB3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 43

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

41
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:

75
# 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 rs1057519550Epileptic
7 GABRB3 p.Ser254Phe VAR_078224 rs1057519549Epileptic
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

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 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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