EIEE82
MCID: EPL249
MIFTS: 17

Epileptic Encephalopathy, Early Infantile, 82 (EIEE82)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 82

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 82:

Name: Epileptic Encephalopathy, Early Infantile, 82 56 6
Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of 56
Got2 Deficiency 56
Eiee82 56

Classifications:



External Ids:

OMIM 56 618721
OMIM Phenotypic Series 56 PS308350

Summaries for Epileptic Encephalopathy, Early Infantile, 82

OMIM : 56 Early infantile epileptic encephalopathy-82 (EIEE82) 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 EIEE, see EIEE1 (308350). (618721)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 82, is also known as glutamate oxaloacetate transaminase, mitochondrial, deficiency of. An important gene associated with Epileptic Encephalopathy, Early Infantile, 82 is GOT2 (Glutamic-Oxaloacetic Transaminase 2). Affiliated tissues include brain, eye and bone.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 82

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 82

Clinical features from OMIM:

618721

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 82

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 82

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 82

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 82

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 82:

40
Brain, Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 82

Articles related to Epileptic Encephalopathy, Early Infantile, 82:

(showing 3, show less)
# Title Authors PMID Year
1
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 61 56 6
31422819 2019
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 82

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 82:

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

Expression for Epileptic Encephalopathy, Early Infantile, 82

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 82.

Pathways for Epileptic Encephalopathy, Early Infantile, 82

GO Terms for Epileptic Encephalopathy, Early Infantile, 82

Sources for Epileptic Encephalopathy, Early Infantile, 82

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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