DEE78
MCID: DVL101
MIFTS: 25

Developmental and Epileptic Encephalopathy 78 (DEE78)

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 78

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 78:

Name: Developmental and Epileptic Encephalopathy 78 57 12
Epileptic Encephalopathy, Early Infantile, 78 57 73
Eiee78 57 73
Dee78 57 12
Epileptic Encephalopathy, Early Infantile, 78; Eiee78 57
Developmental and Epileptic Encephalopathy, 78 6
Early Infantile Epileptic Encephalopathy 78 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
seizures are intractable (in most patients)
one family with an attenuated disease course has been reported (last curated august 2019)


HPO:

31
developmental and epileptic encephalopathy 78:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 78

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 78: 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. EIEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability.

MalaCards based summary : Developmental and Epileptic Encephalopathy 78, is also known as epileptic encephalopathy, early infantile, 78. An important gene associated with Developmental and Epileptic Encephalopathy 78 is GABRA2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2). Affiliated tissues include eye and brain, and related phenotypes are hypothermia and chorea

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has material basis in heterozygous mutation in GABRA2 on chromosome 4p12.

OMIM® : 57 Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by Butler et al., 2018). One family with an attenuated disease course has been reported (Maljevic et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618557) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 78

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 57 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 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 78

Human phenotypes related to Developmental and Epileptic Encephalopathy 78:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypothermia 31 very rare (1%) HP:0002045
2 chorea 31 very rare (1%) HP:0002072
3 microcephaly 31 very rare (1%) HP:0000252
4 neonatal hypotonia 31 very rare (1%) HP:0001319
5 severe global developmental delay 31 very rare (1%) HP:0011344
6 poor eye contact 31 very rare (1%) HP:0000817
7 status epilepticus 31 very rare (1%) HP:0002133
8 seizure 31 very rare (1%) HP:0001250
9 spasticity 31 HP:0001257
10 cerebral palsy 31 HP:0100021
11 generalized hypotonia 31 HP:0001290
12 inability to walk 31 HP:0002540
13 cerebral visual impairment 31 HP:0100704
14 cns hypomyelination 31 HP:0003429

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
status epilepticus
cerebral atrophy
more
Muscle Soft Tissue:
hypotonia, axial
hypertonia, limb

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Eyes:
poor eye contact
poor visual fixation
cortical visual impairment (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM®:

618557 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 78

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 78

Genetic Tests for Developmental and Epileptic Encephalopathy 78

Anatomical Context for Developmental and Epileptic Encephalopathy 78

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 78:

40
Eye, Brain

Publications for Developmental and Epileptic Encephalopathy 78

Articles related to Developmental and Epileptic Encephalopathy 78:

# Title Authors PMID Year
1
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. 57 6
31032849 2019
2
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. 6 57
29961870 2018
3
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. 6 57
29422393 2018

Variations for Developmental and Epileptic Encephalopathy 78

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 78:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA2 NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) SNV Pathogenic 617630 rs1560442716 4:46263999-46263999 4:46261982-46261982
2 GABRA2 NM_000807.4(GABRA2):c.875C>A (p.Thr292Lys) SNV Pathogenic 689387 rs1577800481 4:46264127-46264127 4:46262110-46262110
3 GABRA2 NM_000807.4(GABRA2):c.871C>G (p.Leu291Val) SNV Pathogenic 689388 rs1281490675 4:46264131-46264131 4:46262114-46262114
4 GABRA2 NM_000807.4(GABRA2):c.788T>C (p.Met263Thr) SNV Pathogenic 689389 rs1577975808 4:46305545-46305545 4:46303528-46303528
5 GABRA2 NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu) SNV Pathogenic 689390 rs1243977956 4:46264027-46264027 4:46262010-46262010
6 GABRA2 NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile) SNV Likely pathogenic 976773 4:46264127-46264127 4:46262110-46262110
7 GABRA2 NM_000807.4(GABRA2):c.438del (p.Arg147fs) Deletion Uncertain significance 976220 4:46314551-46314551 4:46312534-46312534

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 78:

73
# Symbol AA change Variation ID SNP ID
1 GABRA2 p.Met263Thr VAR_083186
2 GABRA2 p.Val284Ala VAR_083187
3 GABRA2 p.Leu291Val VAR_083188
4 GABRA2 p.Thr292Lys VAR_083189
5 GABRA2 p.Phe325Leu VAR_083190

Expression for Developmental and Epileptic Encephalopathy 78

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 78.

Pathways for Developmental and Epileptic Encephalopathy 78

GO Terms for Developmental and Epileptic Encephalopathy 78

Sources for Developmental and Epileptic Encephalopathy 78

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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