DEE45
MCID: DVL070
MIFTS: 23

Developmental and Epileptic Encephalopathy 45 (DEE45)

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 45

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 45:

Name: Developmental and Epileptic Encephalopathy 45 57 12
Epileptic Encephalopathy, Early Infantile, 45 57 72 29 6
Eiee45 57 72
Dee45 57 12
Epileptic Encephalopathy, Early Infantile, 45; Eiee45 57
Early Infantile Epileptic Encephalopathy 45 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated october 2020)


HPO:

31
developmental and epileptic encephalopathy 45:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080428
OMIM® 57 617153
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 45

OMIM® : 57 Developmental and epileptic encephalopathy-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by Burgess et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617153) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 45, is also known as epileptic encephalopathy, early infantile, 45. An important gene associated with Developmental and Epileptic Encephalopathy 45 is GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1). Related phenotypes are ataxia and developmental regression

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has material basis in heterozygous mutation in the GABRB1 gene on chromosome 4p13.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 45

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 45

Human phenotypes related to Developmental and Epileptic Encephalopathy 45:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 developmental regression 31 HP:0002376
3 global developmental delay 31 HP:0001263
4 hypoplasia of the corpus callosum 31 HP:0002079
5 generalized hypotonia 31 HP:0001290
6 cerebral visual impairment 31 HP:0100704
7 hypsarrhythmia 31 HP:0002521
8 epileptic encephalopathy 31 HP:0200134
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
cerebral atrophy
epileptic encephalopathy
hypotonia
more
Head And Neck Eyes:
cortical visual impairment (in some patients)

Clinical features from OMIM®:

617153 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 45

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 45

Genetic Tests for Developmental and Epileptic Encephalopathy 45

Genetic tests related to Developmental and Epileptic Encephalopathy 45:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 45 29 GABRB1

Anatomical Context for Developmental and Epileptic Encephalopathy 45

Publications for Developmental and Epileptic Encephalopathy 45

Articles related to Developmental and Epileptic Encephalopathy 45:

(showing 4, show less)
# Title Authors PMID Year
1
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. 57 6
31618474 2019
2
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. 57 6
27273810 2016
3
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 57 6
26950270 2016
4
De novo mutations in epileptic encephalopathies. 57 6
23934111 2013

Variations for Developmental and Epileptic Encephalopathy 45

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 45:

6 (showing 7, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GABRB1 NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) SNV Pathogenic 265863 rs886039817 GRCh37: 4:47405630-47405630
GRCh38: 4:47403613-47403613
2 GABRB1 NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) SNV Pathogenic 984675 GRCh37: 4:47405633-47405633
GRCh38: 4:47403616-47403616
3 GABRB1 NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) SNV Likely pathogenic 265864 rs886039818 GRCh37: 4:47408723-47408723
GRCh38: 4:47406706-47406706
4 GABRB1 NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) SNV Likely pathogenic 431076 rs1135401786 GRCh37: 4:47034007-47034007
GRCh38: 4:47031990-47031990
5 GABRB1 NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) SNV Likely pathogenic 982940 GRCh37: 4:47408717-47408717
GRCh38: 4:47406700-47406700
6 GABRB1 NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) SNV Uncertain significance 638346 rs775749394 GRCh37: 4:47163332-47163332
GRCh38: 4:47161315-47161315
7 GABRB1 NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) SNV Uncertain significance 1034301 GRCh37: 4:47405419-47405419
GRCh38: 4:47403402-47403402

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 45:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 GABRB1 p.Phe246Ser VAR_077104 rs886039817
2 GABRB1 p.Thr287Ile VAR_077105 rs886039818

Expression for Developmental and Epileptic Encephalopathy 45

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 45.

Pathways for Developmental and Epileptic Encephalopathy 45

GO Terms for Developmental and Epileptic Encephalopathy 45

Sources for Developmental and Epileptic Encephalopathy 45

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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