DEE82
MCID: DVL105
MIFTS: 23

Developmental and Epileptic Encephalopathy 82 (DEE82)

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 82

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 82:

Name: Developmental and Epileptic Encephalopathy 82 57 12
Epileptic Encephalopathy, Early Infantile, 82 57 73 6
Got2 Deficiency 57 73
Eiee82 57 73
Dee82 57 12
Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of 57
Deficiency of Mitochondrial Glutamate Oxaloacetate Transaminase 73
Epileptic Encephalopathy, Early Infantile, 82; Eiee82 57
Early Infantile Epileptic Encephalopathy 82 12

Characteristics:

OMIM®:

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

Miscellaneous:
early death may occur
seizures may be refractory
onset soon after birth
seizure onset in first year of life
beneficial response to treatment with pyridoxine and serine
four patients from 3 unrelated families have been reported (last curated december 2019)


HPO:

31
developmental and epileptic encephalopathy 82:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 82

OMIM® : 57 Developmental and epileptic encephalopathy-82 (DEE82) is an autosomal recessive mitochondriopathy manifest as early-onset metabolic epileptic encephalopathy. Soon after birth, affected individuals exhibit hypotonia, feeding difficulties, and global developmental delay even before the onset of seizures in the first year of life. The severity is variable, but all patients have severely impaired intellectual development with absent speech and spastic tetraplegia. Other features include poor overall growth with microcephaly and recurrent infections. Brain imaging shows cerebral atrophy, thin corpus callosum, cerebellar hypoplasia, and white matter abnormalities. Laboratory studies show increased serum lactate and ammonia. Importantly, treatment with combined pyridoxine and serine can result in significant improvement in seizures as well as some mild developmental progress (summary by van Karnebeek et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618721) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 82, is also known as epileptic encephalopathy, early infantile, 82. An important gene associated with Developmental and Epileptic Encephalopathy 82 is GOT2 (Glutamic-Oxaloacetic Transaminase 2). Affiliated tissues include brain, and related phenotypes are neonatal hypotonia and short stature

Disease Ontology : 12 A developmental and epileptic encephalopathy chacterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has material basis in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 82: 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. EIEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia.

Related Diseases for Developmental and Epileptic Encephalopathy 82

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 82

Human phenotypes related to Developmental and Epileptic Encephalopathy 82:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 31 very rare (1%) HP:0001319
2 short stature 31 very rare (1%) HP:0004322
3 feeding difficulties in infancy 31 very rare (1%) HP:0008872
4 spastic tetraplegia 31 very rare (1%) HP:0002510
5 intellectual disability, severe 31 very rare (1%) HP:0010864
6 absent speech 31 very rare (1%) HP:0001344
7 increased serum lactate 31 very rare (1%) HP:0002151
8 hyperammonemia 31 very rare (1%) HP:0001987
9 decreased body weight 31 very rare (1%) HP:0004325
10 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
11 recurrent infections 31 very rare (1%) HP:0002719
12 spastic paraparesis 31 very rare (1%) HP:0002313
13 cerebral atrophy 31 very rare (1%) HP:0002059
14 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
15 inability to walk 31 very rare (1%) HP:0002540
16 progressive microcephaly 31 very rare (1%) HP:0000253
17 seizure 31 very rare (1%) HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
global developmental delay
absent speech
cerebellar hypoplasia
spastic paraparesis
more
Skeletal Spine:
scoliosis

Laboratory Abnormalities:
increased serum lactate
increased serum ammonia
decreased serine (patient a)
increased citrulline (patient a)

Abdomen Gastrointestinal:
drooling
poor feeding

Muscle Soft Tissue:
axial hypotonia

Growth Other:
failure to thrive
poor overall growth

Respiratory:
respiratory insufficiency

Immunology:
recurrent infections

Head And Neck Eyes:
nystagmus (in some patients)

Head And Neck Head:
microcephaly, progressive

Clinical features from OMIM®:

618721 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 82

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 82

Genetic Tests for Developmental and Epileptic Encephalopathy 82

Anatomical Context for Developmental and Epileptic Encephalopathy 82

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 82:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 82

Articles related to Developmental and Epileptic Encephalopathy 82:

# Title Authors PMID Year
1
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 57 6 61
31422819 2019

Variations for Developmental and Epileptic Encephalopathy 82

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 82:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GOT2 NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) SNV Pathogenic 691279 rs1247507359 16:58749928-58749928 16:58716024-58716024
2 GOT2 NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) SNV Pathogenic 691280 rs752927520 16:58750636-58750636 16:58716732-58716732
3 GOT2 NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) SNV Pathogenic 691281 rs1597696047 16:58743394-58743394 16:58709490-58709490
4 GOT2 NM_002080.4(GOT2):c.618_620TCT[2] (p.Leu209del) Microsatellite Pathogenic 691278 rs1473654961 16:58752176-58752178 16:58718272-58718274

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 82:

73
# Symbol AA change Variation ID SNP ID
1 GOT2 p.Arg262Gly VAR_083489

Expression for Developmental and Epileptic Encephalopathy 82

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 82.

Pathways for Developmental and Epileptic Encephalopathy 82

GO Terms for Developmental and Epileptic Encephalopathy 82

Sources for Developmental and Epileptic Encephalopathy 82

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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