MCID: EPL156
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 33

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye diseases, Liver diseases, Muscle diseases, Mental diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 33

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 33:

Name: Epileptic Encephalopathy, Early Infantile, 33 53 71 28
Eiee33 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
two unrelated patients have been reported (last curated june 2015)
de novo mutation


HPO:

31
epileptic encephalopathy, early infantile, 33:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 33

UniProtKB/Swiss-Prot : 71 Epileptic encephalopathy, early infantile, 33: 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 33, is also known as eiee33, and has symptoms including microcephaly, aggressive behavior and seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 33 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2).

Description from OMIM: 616409

Related Diseases for Epileptic Encephalopathy, Early Infantile, 33

Diseases in the 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, 25
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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 33

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
microcephaly, acquired (1 patient)

Neurologic Central Nervous System:
epileptic encephalopathy
delayed psychomotor development, severe
seizures
limited or absent speech
gait instability
more
Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Behavioral Psychiatric Manifestations:
autistic features
aggressive behavior


Clinical features from OMIM:

616409

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 33:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 aggressive behavior 31 HP:0000718
3 seizures 31 HP:0001250
4 muscular hypotonia 31 HP:0001252
5 global developmental delay 31 HP:0001263
6 neonatal hypotonia 31 HP:0001319
7 unsteady gait 31 HP:0002317
8 hypsarrhythmia 31 HP:0002521
9 postnatal microcephaly 31 HP:0005484
10 epileptic encephalopathy 31 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 33

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 33

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 33

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 33:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 33 28 EEF1A2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 33

Publications for Epileptic Encephalopathy, Early Infantile, 33

Variations for Epileptic Encephalopathy, Early Infantile, 33

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 33:

71
# Symbol AA change Variation ID SNP ID
1 EEF1A2 p.Gly70Ser VAR_069395 rs587777162

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 33:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EEF1A2 NM_001958.3(EEF1A2): c.208G> A (p.Gly70Ser) single nucleotide variant Pathogenic rs587777162 GRCh37 Chromosome 20, 62127325: 62127325
2 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh37 Chromosome 20, 62126415: 62126415

Expression for Epileptic Encephalopathy, Early Infantile, 33

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 33.

Pathways for Epileptic Encephalopathy, Early Infantile, 33

GO Terms for Epileptic Encephalopathy, Early Infantile, 33

Sources for Epileptic Encephalopathy, Early Infantile, 33

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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