DEE43
MCID: DVL068
MIFTS: 24

Developmental and Epileptic Encephalopathy 43 (DEE43)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 43

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 43:

Name: Developmental and Epileptic Encephalopathy 43 57 12
Epileptic Encephalopathy, Early Infantile, 43 57 72 29 6
Eiee43 57 72
Dee43 57 12
Epileptic Encephalopathy, Early Infantile, 43; Eiee43 57
Early Infantile Epileptic Encephalopathy 43 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
developmental and epileptic encephalopathy 43:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080447
OMIM® 57 617113
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 43

OMIM® : 57 Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the Epi4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617113) (Updated 05-Apr-2021)

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

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has material basis in heterozygous mutation in the GABRB3 gene on chromosome 15q11.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 43

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 43

Human phenotypes related to Developmental and Epileptic Encephalopathy 43:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 dyskinesia 31 HP:0100660
5 hyperactivity 31 HP:0000752
6 generalized hypotonia 31 HP:0001290
7 epileptic encephalopathy 31 HP:0200134
8 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 43

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 43

Genetic Tests for Developmental and Epileptic Encephalopathy 43

Genetic tests related to Developmental and Epileptic Encephalopathy 43:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 43 29 GABRB3

Anatomical Context for Developmental and Epileptic Encephalopathy 43

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 43:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 43

Articles related to Developmental and Epileptic Encephalopathy 43:

(showing 2, show less)
# Title Authors PMID Year
1
De novo mutations in epileptic encephalopathies. 57 6
23934111 2013
2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 57
27476654 2016

Variations for Developmental and Epileptic Encephalopathy 43

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 43:

6 (showing 19, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GABRB3 NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) SNV Pathogenic 254262 rs886037939 GRCh37: 15:26825603-26825603
GRCh38: 15:26580456-26580456
2 GABRB3 NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) SNV Pathogenic 254263 rs886037940 GRCh37: 15:26812818-26812818
GRCh38: 15:26567671-26567671
3 GABRB3 NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) SNV Pathogenic 254261 rs886037938 GRCh37: 15:26866564-26866564
GRCh38: 15:26621417-26621417
4 GABRB3 NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) SNV Pathogenic 254264 rs886037941 GRCh37: 15:26806246-26806246
GRCh38: 15:26561099-26561099
5 GABRB3 NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu) SNV Likely pathogenic 423595 GRCh37: 15:26812805-26812805
GRCh38: 15:26567658-26567658
6 GABRB3 NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) SNV Likely pathogenic 870184 GRCh37: 15:26812830-26812830
GRCh38: 15:26567683-26567683
7 GABRB3 NM_000814.6(GABRB3):c.173-2A>T SNV Likely pathogenic 973239 GRCh37: 15:27017618-27017618
GRCh38: 15:26772471-26772471
8 GABRB3 NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) SNV Likely pathogenic 975911 GRCh37: 15:26812796-26812796
GRCh38: 15:26567649-26567649
9 GABRB3 NM_000814.6(GABRB3):c.630G>C (p.Gln210His) SNV Likely pathogenic 984646 GRCh37: 15:26825518-26825518
GRCh38: 15:26580371-26580371
10 GABRB3 NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) SNV Likely pathogenic 559623 rs1064794797 GRCh37: 15:27017550-27017550
GRCh38: 15:26772403-26772403
11 GABRB3 NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) SNV Likely pathogenic 1028379 GRCh37: 15:26828527-26828527
GRCh38: 15:26583380-26583380
12 GABRB3 NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro) SNV Uncertain significance 1028380 GRCh37: 15:26825469-26825469
GRCh38: 15:26580322-26580322
13 GABRB3 NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) SNV Uncertain significance 983109 GRCh37: 15:26806126-26806126
GRCh38: 15:26560979-26560979
14 GABRB3 NM_000814.6(GABRB3):c.8del (p.Gly3fs) Deletion Uncertain significance 983110 GRCh37: 15:27018102-27018102
GRCh38: 15:26772955-26772955
15 GABRB3 NM_000814.6(GABRB3):c.461+15T>G SNV Uncertain significance 930710 GRCh37: 15:26866446-26866446
GRCh38: 15:26621299-26621299
16 GABRB3 NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) SNV Uncertain significance 813738 rs1595445975 GRCh37: 15:26812869-26812869
GRCh38: 15:26567722-26567722
17 GABRB3 NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) SNV Uncertain significance 571274 rs769801846 GRCh37: 15:26825591-26825591
GRCh38: 15:26580444-26580444
18 GABRB3 NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) SNV Uncertain significance 537293 rs756369937 GRCh37: 15:26866630-26866630
GRCh38: 15:26621483-26621483
19 GABRB3 NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile) SNV not provided 973061 GRCh37: 15:26806231-26806231
GRCh38: 15:26561084-26561084

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 43:

72 (showing 8, show less)
# 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 Developmental and Epileptic Encephalopathy 43

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 43.

Pathways for Developmental and Epileptic Encephalopathy 43

GO Terms for Developmental and Epileptic Encephalopathy 43

Sources for Developmental and Epileptic Encephalopathy 43

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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