DEE79
MCID: DVL102
MIFTS: 23

Developmental and Epileptic Encephalopathy 79 (DEE79)

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Aliases & Classifications for Developmental and Epileptic Encephalopathy 79

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 79:

Name: Developmental and Epileptic Encephalopathy 79 57 12
Epileptic Encephalopathy, Early Infantile, 79 57 73
Eiee79 57 73
Dee79 57 12
Epileptic Encephalopathy, Early Infantile, 79; Eiee79 57
Developmental and Epileptic Encephalopathy, 79 6
Early Infantile Epileptic Encephalopathy 79 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated august 2019)
seizures, refractory or difficult to control


HPO:

31
developmental and epileptic encephalopathy 79:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112215
OMIM® 57 618559
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 79

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 79: 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. EIEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum.

MalaCards based summary : Developmental and Epileptic Encephalopathy 79, is also known as epileptic encephalopathy, early infantile, 79. An important gene associated with Developmental and Epileptic Encephalopathy 79 is GABRA5 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5). Affiliated tissues include brain, and related phenotypes are spasticity and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has material basis in heterozygous mutation in GABRA5 on chromosome 15q12.

OMIM® : 57 Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618559) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 79

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 79

Human phenotypes related to Developmental and Epileptic Encephalopathy 79:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 global developmental delay 31 very rare (1%) HP:0001263
3 intellectual disability, severe 31 very rare (1%) HP:0010864
4 autism 31 very rare (1%) HP:0000717
5 motor delay 31 very rare (1%) HP:0001270
6 cerebral cortical atrophy 31 very rare (1%) HP:0002120
7 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
8 status epilepticus 31 very rare (1%) HP:0002133
9 postnatal microcephaly 31 very rare (1%) HP:0005484
10 generalized hypotonia 31 very rare (1%) HP:0001290
11 cns hypomyelination 31 very rare (1%) HP:0003429
12 frontotemporal cerebral atrophy 31 very rare (1%) HP:0006892
13 myoclonic seizure 31 very rare (1%) HP:0032794
14 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190
15 tonic seizure 31 very rare (1%) HP:0032792
16 migrating focal seizure 31 very rare (1%) HP:0032786

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
global developmental delay
absent speech
status epilepticus
cerebral atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features (1 patient)

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, acquired

Clinical features from OMIM®:

618559 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 79

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 79

Genetic Tests for Developmental and Epileptic Encephalopathy 79

Anatomical Context for Developmental and Epileptic Encephalopathy 79

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 79:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 79

Articles related to Developmental and Epileptic Encephalopathy 79:

# Title Authors PMID Year
1
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 57 6
31056671 2019
2
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. 6 57
29961870 2018

Variations for Developmental and Epileptic Encephalopathy 79

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 79:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRA5 NM_000810.4(GABRA5):c.880G>C (p.Val294Leu) SNV Pathogenic 689391 rs1595438243 15:27188364-27188364 15:26943217-26943217
2 GABRA5 NM_000810.4(GABRA5):c.880G>T (p.Val294Phe) SNV Pathogenic 689392 rs1595438243 15:27188364-27188364 15:26943217-26943217
3 GABRA5 NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe) SNV Pathogenic 689393 rs1595441329 15:27193229-27193229 15:26948082-26948082
4 GABRA5 NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) SNV Likely pathogenic 801399 rs1595438268 15:27188386-27188386 15:26943239-26943239

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 79:

73
# Symbol AA change Variation ID SNP ID
1 GABRA5 p.Val294Phe VAR_083201
2 GABRA5 p.Val294Leu VAR_083202
3 GABRA5 p.Ser413Phe VAR_083203

Expression for Developmental and Epileptic Encephalopathy 79

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 79.

Pathways for Developmental and Epileptic Encephalopathy 79

GO Terms for Developmental and Epileptic Encephalopathy 79

Sources for Developmental and Epileptic Encephalopathy 79

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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