DEE74
MCID: DVL098
MIFTS: 23

Developmental and Epileptic Encephalopathy 74 (DEE74)

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 74

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 74:

Name: Developmental and Epileptic Encephalopathy 74 57 12
Developmental and Epileptic Encephalopathy, 74 29 6
Epileptic Encephalopathy, Early Infantile, 74 57 72
Eiee74 57 72
Dee74 57 12
Epileptic Encephalopathy, Early Infantile, 74; Eiee74 57
Encephalopathy, Epileptic, Early Infantile, Type 74 39
Early Infantile Epileptic Encephalopathy 74 12

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
onset in first year of life


HPO:

31
developmental and epileptic encephalopathy 74:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112210
OMIM® 57 618396
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
SNOMED-CT via HPO 68 263681008 563001

Summaries for Developmental and Epileptic Encephalopathy 74

OMIM® : 57 Developmental and epileptic encephalopathy-74 (DEE74) is neurologic disorder characterized by the onset of refractory seizures in the first months of life. Seizure types are variable and include infantile spasms, myoclonic, tonic, atonic, and absence, often with secondary generalization. Affected individuals have severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language (summary by Shen et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618396) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 74, is also known as developmental and epileptic encephalopathy, 74. An important gene associated with Developmental and Epileptic Encephalopathy 74 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2). Affiliated tissues include eye and brain, and related phenotypes are nystagmus and absent speech

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has material basis in heterozygous mutation in GABRG2 on chromosome 5q34.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 74: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE74 is an autosomal dominant form with onset in the first year of life.

Related Diseases for Developmental and Epileptic Encephalopathy 74

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 74

Human phenotypes related to Developmental and Epileptic Encephalopathy 74:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 absent speech 31 HP:0001344
3 severe global developmental delay 31 HP:0011344
4 generalized hypotonia 31 HP:0001290
5 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
roving eye movements

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
absent speech
epileptic encephalopathy
global developmental delay, severe
motor disability
brain imaging usually normal
more

Clinical features from OMIM®:

618396 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 74

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 74

Genetic Tests for Developmental and Epileptic Encephalopathy 74

Genetic tests related to Developmental and Epileptic Encephalopathy 74:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 74 29 GABRG2

Anatomical Context for Developmental and Epileptic Encephalopathy 74

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 74:

40
Eye, Brain

Publications for Developmental and Epileptic Encephalopathy 74

Articles related to Developmental and Epileptic Encephalopathy 74:

(showing 2, show less)
# Title Authors PMID Year
1
De novo GABRG2 mutations associated with epileptic encephalopathies. 6 57
27864268 2017
2
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013

Variations for Developmental and Epileptic Encephalopathy 74

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 74:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GABRG2 NM_198903.2(GABRG2):c.964C>T (p.Pro322Ser) SNV Pathogenic 625863 rs796052508 GRCh37: 5:161569244-161569244
GRCh38: 5:162142238-162142238
2 GABRG2 NM_198903.2(GABRG2):c.964C>T (p.Pro322Ser) SNV Pathogenic 625863 rs796052508 GRCh37: 5:161569244-161569244
GRCh38: 5:162142238-162142238
3 GABRG2 NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln) SNV Pathogenic 60708 rs397514737 GRCh37: 5:161576159-161576159
GRCh38: 5:162149153-162149153
4 GABRG2 NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) SNV Pathogenic 205541 rs796052505 GRCh37: 5:161522557-161522557
GRCh38: 5:162095551-162095551
5 GABRG2 NM_198903.2:c.-61_889+60del Deletion Likely pathogenic 975991 GRCh37:
GRCh38:
6 GABRG2 NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro) SNV Uncertain significance 931825 GRCh37: 5:161569187-161569187
GRCh38: 5:162142181-162142181
7 GABRG2 NM_198904.4(GABRG2):c.632-5G>A SNV Uncertain significance 1028381 GRCh37: 5:161530890-161530890
GRCh38: 5:162103884-162103884
8 GABRG2 NM_198904.4(GABRG2):c.770-12G>A SNV Uncertain significance 1028382 GRCh37: 5:161569158-161569158
GRCh38: 5:162142152-162142152

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 74:

72 (showing 6, show less)
# Symbol AA change Variation ID SNP ID
1 GABRG2 p.Arg323Gln VAR_078620 rs397514737
2 GABRG2 p.Ala106Thr VAR_082266 rs796052505
3 GABRG2 p.Ile107Thr VAR_082267
4 GABRG2 p.Pro282Ser VAR_082268 rs796052508
5 GABRG2 p.Arg323Trp VAR_082269 rs796052510
6 GABRG2 p.Phe343Leu VAR_082270 rs796052511

Expression for Developmental and Epileptic Encephalopathy 74

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 74.

Pathways for Developmental and Epileptic Encephalopathy 74

GO Terms for Developmental and Epileptic Encephalopathy 74

Sources for Developmental and Epileptic Encephalopathy 74

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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