EIEE43
MCID: EPL175
MIFTS: 24

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 57 74 29 6
Eiee43 57 74
Early Infantile Epileptic Encephalopathy 43 12

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:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080447
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 43

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 617113 PS308350

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 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, 43

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

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

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

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

Articles related to Epileptic Encephalopathy, Early Infantile, 43:

# Title Authors PMID Year
1
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 8 71
27476654 2016
2
De novo mutations in epileptic encephalopathies. 8
23934111 2013
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 43

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GABRB3 NM_021912.5(GABRB3): c.358G> A (p.Asp120Asn) single nucleotide variant Pathogenic rs886037938 15:26866564-26866564 15:26621417-26621417
2 GABRB3 NM_021912.5(GABRB3): c.545A> T (p.Tyr182Phe) single nucleotide variant Pathogenic rs886037939 15:26825603-26825603 15:26580456-26580456
3 GABRB3 NM_021912.5(GABRB3): c.745C> A (p.Gln249Lys) single nucleotide variant Pathogenic rs886037940 15:26812818-26812818 15:26567671-26567671
4 GABRB3 NM_021912.5(GABRB3): c.913G> A (p.Ala305Thr) single nucleotide variant Pathogenic rs886037941 15:26806246-26806246 15:26561099-26561099
5 GABRB3 NM_021912.5(GABRB3): c.239T> G (p.Met80Arg) single nucleotide variant Likely pathogenic rs1064794797 15:27017550-27017550 15:26772403-26772403
6 GABRB3 NM_021912.5(GABRB3): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs756369937 15:26866630-26866630 15:26621483-26621483
7 GABRB3 NM_021912.5(GABRB3): c.557C> T (p.Thr186Met) single nucleotide variant Uncertain significance 15:26825591-26825591 15:26580444-26580444

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

74
# 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

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
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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