DEE92
MCID: DVL115
MIFTS: 25

Developmental and Epileptic Encephalopathy 92 (DEE92)

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 92

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 92:

Name: Developmental and Epileptic Encephalopathy 92 57 12 29
Epileptic Encephalopathy, Infantile or Early Childhood, 2 57 72
Iecee2 57 72
Epileptic Encephalopathy, Infantile or Early Childhood, 2; Iecee2 57
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 2 39
Epileptic Encephalopathy, Infantile or Early Childhood 2 6
Dee92 57

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
de novo mutation
variable age at seizure onset (range early infancy to 6 years)
seizures are refractory in some patients


HPO:

31
developmental and epileptic encephalopathy 92:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 92

OMIM® : 57 Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. (617829) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 92, is also known as epileptic encephalopathy, infantile or early childhood, 2. An important gene associated with Developmental and Epileptic Encephalopathy 92 is GABRB2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2). Affiliated tissues include brain, and related phenotypes are global developmental delay and postnatal microcephaly

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has material basis in heterozygous mutation in the GABRB2 gene on chromosome 5q34.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, infantile or early childhood, 2: 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. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years.

Related Diseases for Developmental and Epileptic Encephalopathy 92

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 92

Human phenotypes related to Developmental and Epileptic Encephalopathy 92:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 postnatal microcephaly 31 very rare (1%) HP:0005484
3 inability to walk 31 very rare (1%) HP:0002540
4 epileptic encephalopathy 31 very rare (1%) HP:0200134
5 seizure 31 very rare (1%) HP:0001250
6 intellectual disability 31 HP:0001249
7 spasticity 31 HP:0001257
8 eeg abnormality 31 HP:0002353
9 ataxia 31 HP:0001251
10 dyskinesia 31 HP:0100660
11 myoclonus 31 HP:0001336
12 absent speech 31 HP:0001344
13 dystonia 31 HP:0001332
14 lethargy 31 HP:0001254
15 feeding difficulties 31 HP:0011968
16 difficulty walking 31 HP:0002355
17 cerebral visual impairment 31 HP:0100704

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
ataxia
dyskinesia
myoclonus
dystonia
more
Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
cortical visual impairment

Clinical features from OMIM®:

617829 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 92

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 92

Genetic Tests for Developmental and Epileptic Encephalopathy 92

Genetic tests related to Developmental and Epileptic Encephalopathy 92:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy 92 29 GABRB2

Anatomical Context for Developmental and Epileptic Encephalopathy 92

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 92:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 92

Articles related to Developmental and Epileptic Encephalopathy 92:

# Title Authors PMID Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 57 6
29100083 2017
2
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. 57 6
27789573 2017
3
A novel variant in GABRB2 associated with intellectual disability and epilepsy. 6 57
25124326 2014

Variations for Developmental and Epileptic Encephalopathy 92

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 92:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GABRB2 NM_000813.3(GABRB2):c.236T>C (p.Met79Thr) SNV Pathogenic 161444 rs606231468 GRCh37: 5:160972234-160972234
GRCh38: 5:161545228-161545228
2 GABRB2 NM_000813.3(GABRB2):c.730T>C (p.Tyr244His) SNV Pathogenic 487682 rs1554094149 GRCh37: 5:160761861-160761861
GRCh38: 5:161334854-161334854
3 GABRB2 NM_000813.3(GABRB2):c.859A>C (p.Thr287Pro) SNV Pathogenic 487680 rs1554093894 GRCh37: 5:160758108-160758108
GRCh38: 5:161331101-161331101
4 GABRB2 NM_000813.3(GABRB2):c.830T>C (p.Leu277Ser) SNV Pathogenic 487683 rs1554094145 GRCh37: 5:160761761-160761761
GRCh38: 5:161334754-161334754
5 GABRB2 NM_000813.3(GABRB2):c.908A>G (p.Lys303Arg) SNV Pathogenic 487681 rs1554093885 GRCh37: 5:160758059-160758059
GRCh38: 5:161331052-161331052
6 GABRB2 NM_000813.3(GABRB2):c.904G>A (p.Val302Met) SNV Likely pathogenic 427157 rs1085307993 GRCh37: 5:160758063-160758063
GRCh38: 5:161331056-161331056
7 GABRB2 NM_001371727.1(GABRB2):c.986T>A (p.Ile329Asn) SNV Likely pathogenic 984724 GRCh37: 5:160757981-160757981
GRCh38: 5:161330974-161330974
8 GABRB2 NM_000813.3(GABRB2):c.1211G>A (p.Arg404Gln) SNV Uncertain significance 656109 rs779091017 GRCh37: 5:160721302-160721302
GRCh38: 5:161294295-161294295
9 GABRB2 NM_001371727.1(GABRB2):c.181G>T (p.Ala61Ser) SNV Uncertain significance 855104 GRCh37: 5:160972289-160972289
GRCh38: 5:161545283-161545283
10 GABRB2 NM_001371727.1(GABRB2):c.475G>T (p.Ala159Ser) SNV Uncertain significance 930595 GRCh37: 5:160838047-160838047
GRCh38: 5:161411041-161411041
11 GABRB2 NM_001371727.1(GABRB2):c.848T>C (p.Leu283Pro) SNV Uncertain significance 973238 GRCh37: 5:160758119-160758119
GRCh38: 5:161331112-161331112
12 GABRB2 NM_001371727.1(GABRB2):c.547T>C (p.Tyr183His) SNV Uncertain significance 976113 GRCh37: 5:160763771-160763771
GRCh38: 5:161336764-161336764
13 GABRB2 NM_001371727.1(GABRB2):c.658A>G (p.Lys220Glu) SNV Uncertain significance 983081 GRCh37: 5:160763660-160763660
GRCh38: 5:161336653-161336653
14 GABRB2 NM_021911.2(GABRB2):c.578G>A (p.Arg193His) SNV Uncertain significance 265164 rs373324958 GRCh37: 5:160763740-160763740
GRCh38: 5:161336733-161336733
15 GABRB2 NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His) SNV Benign 833969 GRCh37: 5:160757906-160757906
GRCh38: 5:161330899-161330899
16 GABRB2 NM_001371727.1(GABRB2):c.910G>A (p.Ala304Thr) SNV not provided 972959 GRCh37: 5:160758057-160758057
GRCh38: 5:161331050-161331050
17 GABRB2 NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr) SNV not provided 973184 GRCh37: 5:160761837-160761837
GRCh38: 5:161334830-161334830

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 92:

72
# Symbol AA change Variation ID SNP ID
1 GABRB2 p.Thr287Pro VAR_080716 rs155409389

Expression for Developmental and Epileptic Encephalopathy 92

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 92.

Pathways for Developmental and Epileptic Encephalopathy 92

GO Terms for Developmental and Epileptic Encephalopathy 92

Sources for Developmental and Epileptic Encephalopathy 92

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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