DEE59
MCID: DVL083
MIFTS: 24

Developmental and Epileptic Encephalopathy 59 (DEE59)

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 59

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 59:

Name: Developmental and Epileptic Encephalopathy 59 57 12
Early Infantile Epileptic Encephalopathy 59 12 29 6
Epileptic Encephalopathy, Early Infantile, 59 57 73
Eiee59 57 73
Dee59 57 12
Epileptic Encephalopathy, Early Infantile, 59; Eiee59 57

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
seizures are usually refractory
developmental delay apparent from early infancy
onset of seizures in the first months of life (range 1.5 to 11 months)


HPO:

31
developmental and epileptic encephalopathy 59:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 59

OMIM® : 57 Developmental and epileptic encephalopathy-59 (DEE59) is characterized by severe global developmental delay apparent in infancy with onset of various types of seizures in the first months of life (range 3 to 11 months). The seizures are usually refractory and are often associated with hypsarrhythmia on EEG, although brain imaging is usually normal. More severely affected individuals may be unable to speak or walk, have poor interaction, and require a feeding tube (summary by the EuroEPINOMICS-RES Consortium et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617904) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 59, is also known as early infantile epileptic encephalopathy 59. An important gene associated with Developmental and Epileptic Encephalopathy 59 is GABBR2 (Gamma-Aminobutyric Acid Type B Receptor Subunit 2). Affiliated tissues include brain, and related phenotypes are intellectual disability and sleep disturbance

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has material basis in heterozygous mutation in the GABBR2 gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 59: 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. EIEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy.

Related Diseases for Developmental and Epileptic Encephalopathy 59

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 59

Human phenotypes related to Developmental and Epileptic Encephalopathy 59:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 sleep disturbance 31 HP:0002360
3 scoliosis 31 HP:0002650
4 self-injurious behavior 31 HP:0100716
5 absent speech 31 HP:0001344
6 ventriculomegaly 31 HP:0002119
7 poor head control 31 HP:0002421
8 generalized hypotonia 31 HP:0001290
9 inability to walk 31 HP:0002540
10 hypsarrhythmia 31 HP:0002521
11 drooling 31 HP:0002307
12 epileptic encephalopathy 31 HP:0200134
13 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
absent speech
epileptic encephalopathy
sleep disturbances
hypotonia
more
Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
aggressive outbursts

Head And Neck Mouth:
drooling

Head And Neck Eyes:
poor visual contact

Skeletal Spine:
scoliosis

Head And Neck Head:
poor head control

Abdomen Gastrointestinal:
poor feeding
tube feeding

Clinical features from OMIM®:

617904 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 59

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 59

Genetic Tests for Developmental and Epileptic Encephalopathy 59

Genetic tests related to Developmental and Epileptic Encephalopathy 59:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 59 29 GABBR2

Anatomical Context for Developmental and Epileptic Encephalopathy 59

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 59:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 59

Articles related to Developmental and Epileptic Encephalopathy 59:

# Title Authors PMID Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6 57
29100083 2017
2
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 57 6
28856709 2017
3
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 57 6
25262651 2014

Variations for Developmental and Epileptic Encephalopathy 59

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 59:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABBR2 NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile) SNV Pathogenic 496589 rs1554689319 9:101068548-101068548 9:98306266-98306266
2 GABBR2 NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn) SNV Pathogenic 496590 rs1554689315 9:101068518-101068518 9:98306236-98306236
3 GABBR2 NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp) SNV Pathogenic 496588 rs1554689320 9:101068555-101068555 9:98306273-98306273
4 GABBR2 NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) SNV Uncertain significance 571315 rs1054346747 9:101470964-101470964 9:98708682-98708682
5 GABBR2 NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro) SNV Likely benign 843039 9:101470952-101470952 9:98708670-98708670

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 59:

73
# Symbol AA change Variation ID SNP ID
1 GABBR2 p.Ser695Ile VAR_080570 rs155468931
2 GABBR2 p.Ile705Asn VAR_080571 rs155468931

Expression for Developmental and Epileptic Encephalopathy 59

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 59.

Pathways for Developmental and Epileptic Encephalopathy 59

GO Terms for Developmental and Epileptic Encephalopathy 59

Sources for Developmental and Epileptic Encephalopathy 59

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
Content
Loading form....