EIEE33
MCID: EPL156
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 33 (EIEE33)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 33

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

Name: Epileptic Encephalopathy, Early Infantile, 33 58 76 30 6
Eiee33 58 76
Encephalopathy, Epileptic, Early Infantile, Type 33 41
Early Infantile Epileptic Encephalopathy 33 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 33

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Epileptic Encephalopathy, Early Infantile, 33 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2). Related phenotypes are seizures and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.

Description from OMIM: 616409

Related Diseases for Epileptic Encephalopathy, Early Infantile, 33

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 33

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 neonatal hypotonia 33 HP:0001319
4 absent speech 33 HP:0001344
5 aggressive behavior 33 HP:0000718
6 postnatal microcephaly 33 HP:0005484
7 unsteady gait 33 HP:0002317
8 hypsarrhythmia 33 HP:0002521
9 epileptic encephalopathy 33 HP:0200134

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hypsarrhythmia
epileptic encephalopathy
gait instability
delayed psychomotor development, severe
more
Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features

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

Clinical features from OMIM:

616409

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 30 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:

76
# 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 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh37 Chromosome 20, 62126415: 62126415
2 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh38 Chromosome 20, 63495062: 63495062
3 EEF1A2 NM_001958.3(EEF1A2): c.208G> A (p.Gly70Ser) single nucleotide variant Pathogenic rs587777162 GRCh37 Chromosome 20, 62127325: 62127325
4 EEF1A2 NM_001958.3(EEF1A2): c.208G> A (p.Gly70Ser) single nucleotide variant Pathogenic rs587777162 GRCh38 Chromosome 20, 63495972: 63495972
5 EEF1A2 NM_001958.3(EEF1A2): c.1267C> T (p.Arg423Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs886039346 GRCh37 Chromosome 20, 62119776: 62119776
6 EEF1A2 NM_001958.3(EEF1A2): c.1267C> T (p.Arg423Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs886039346 GRCh38 Chromosome 20, 63488423: 63488423
7 EEF1A2 NM_001958.3(EEF1A2): c.370G> A (p.Glu124Lys) single nucleotide variant Pathogenic/Likely pathogenic rs886042041 GRCh37 Chromosome 20, 62126409: 62126409
8 EEF1A2 NM_001958.3(EEF1A2): c.370G> A (p.Glu124Lys) single nucleotide variant Pathogenic/Likely pathogenic rs886042041 GRCh38 Chromosome 20, 63495056: 63495056
9 EEF1A2 NM_001958.3(EEF1A2): c.1296G> A (p.Thr432=) single nucleotide variant Benign/Likely benign rs200259257 GRCh37 Chromosome 20, 62119747: 62119747
10 EEF1A2 NM_001958.3(EEF1A2): c.1296G> A (p.Thr432=) single nucleotide variant Benign/Likely benign rs200259257 GRCh38 Chromosome 20, 63488394: 63488394
11 EEF1A2 NM_001958.3(EEF1A2): c.924C> T (p.Val308=) single nucleotide variant Likely benign rs779912733 GRCh37 Chromosome 20, 62121937: 62121937
12 EEF1A2 NM_001958.3(EEF1A2): c.924C> T (p.Val308=) single nucleotide variant Likely benign rs779912733 GRCh38 Chromosome 20, 63490584: 63490584
13 EEF1A2 NM_001958.3(EEF1A2): c.375G> A (p.Ala125=) single nucleotide variant Benign rs2274861 GRCh37 Chromosome 20, 62126404: 62126404
14 EEF1A2 NM_001958.3(EEF1A2): c.375G> A (p.Ala125=) single nucleotide variant Benign rs2274861 GRCh38 Chromosome 20, 63495051: 63495051
15 EEF1A2 NM_001958.3(EEF1A2): c.1335C> T (p.Ser445=) single nucleotide variant Benign rs372257864 GRCh37 Chromosome 20, 62119708: 62119708
16 EEF1A2 NM_001958.3(EEF1A2): c.1335C> T (p.Ser445=) single nucleotide variant Benign rs372257864 GRCh38 Chromosome 20, 63488355: 63488355
17 EEF1A2 NM_001958.3(EEF1A2): c.1263C> T (p.Leu421=) single nucleotide variant Benign rs115107511 GRCh37 Chromosome 20, 62120272: 62120272
18 EEF1A2 NM_001958.3(EEF1A2): c.1263C> T (p.Leu421=) single nucleotide variant Benign rs115107511 GRCh38 Chromosome 20, 63488919: 63488919
19 EEF1A2 NM_001958.3(EEF1A2): c.1030-8G> A single nucleotide variant Benign rs112283537 GRCh38 Chromosome 20, 63489160: 63489160
20 EEF1A2 NM_001958.3(EEF1A2): c.1030-8G> A single nucleotide variant Benign rs112283537 GRCh37 Chromosome 20, 62120513: 62120513
21 EEF1A2 NM_001958.3(EEF1A2): c.807C> T (p.Thr269=) single nucleotide variant Likely benign rs147062680 GRCh37 Chromosome 20, 62122054: 62122054
22 EEF1A2 NM_001958.3(EEF1A2): c.807C> T (p.Thr269=) single nucleotide variant Likely benign rs147062680 GRCh38 Chromosome 20, 63490701: 63490701
23 EEF1A2 NM_001958.3(EEF1A2): c.714C> T (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh37 Chromosome 20, 62124548: 62124548
24 EEF1A2 NM_001958.3(EEF1A2): c.714C> T (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh38 Chromosome 20, 63493195: 63493195
25 EEF1A2 NM_001958.3(EEF1A2): c.672C> T (p.Ser224=) single nucleotide variant Benign/Likely benign rs200051020 GRCh37 Chromosome 20, 62124590: 62124590
26 EEF1A2 NM_001958.3(EEF1A2): c.672C> T (p.Ser224=) single nucleotide variant Benign/Likely benign rs200051020 GRCh38 Chromosome 20, 63493237: 63493237
27 EEF1A2 NM_001958.3(EEF1A2): c.357C> T (p.Gly119=) single nucleotide variant Likely benign rs143241534 GRCh37 Chromosome 20, 62126422: 62126422
28 EEF1A2 NM_001958.3(EEF1A2): c.357C> T (p.Gly119=) single nucleotide variant Likely benign rs143241534 GRCh38 Chromosome 20, 63495069: 63495069
29 EEF1A2 NM_001958.3(EEF1A2): c.237G> A (p.Lys79=) single nucleotide variant Benign rs61737389 GRCh37 Chromosome 20, 62127296: 62127296
30 EEF1A2 NM_001958.3(EEF1A2): c.237G> A (p.Lys79=) single nucleotide variant Benign rs61737389 GRCh38 Chromosome 20, 63495943: 63495943
31 EEF1A2 NM_001958.3(EEF1A2): c.1320C> T (p.Asn440=) single nucleotide variant Benign/Likely benign rs367803280 GRCh37 Chromosome 20, 62119723: 62119723
32 EEF1A2 NM_001958.3(EEF1A2): c.1320C> T (p.Asn440=) single nucleotide variant Benign/Likely benign rs367803280 GRCh38 Chromosome 20, 63488370: 63488370
33 EEF1A2 NM_001958.3(EEF1A2): c.1266C> A (p.Gly422=) single nucleotide variant Benign/Likely benign rs202102758 GRCh38 Chromosome 20, 63488424: 63488424
34 EEF1A2 NM_001958.3(EEF1A2): c.1266C> A (p.Gly422=) single nucleotide variant Benign/Likely benign rs202102758 GRCh37 Chromosome 20, 62119777: 62119777
35 EEF1A2 NM_001958.3(EEF1A2): c.621+9C> T single nucleotide variant Likely benign rs758255976 GRCh37 Chromosome 20, 62126149: 62126149
36 EEF1A2 NM_001958.3(EEF1A2): c.621+9C> T single nucleotide variant Likely benign rs758255976 GRCh38 Chromosome 20, 63494796: 63494796
37 EEF1A2 NM_001958.3(EEF1A2): c.1030-10C> A single nucleotide variant Benign rs571276508 GRCh37 Chromosome 20, 62120515: 62120515
38 EEF1A2 NM_001958.3(EEF1A2): c.1030-10C> A single nucleotide variant Benign rs571276508 GRCh38 Chromosome 20, 63489162: 63489162
39 EEF1A2 NM_001958.3(EEF1A2): c.1265-9_1265-3dupGCCCCCC duplication Likely benign rs760400114 GRCh37 Chromosome 20, 62119781: 62119787
40 EEF1A2 NM_001958.3(EEF1A2): c.1265-9_1265-3dupGCCCCCC duplication Likely benign rs760400114 GRCh38 Chromosome 20, 63488428: 63488434
41 EEF1A2 NM_001958.3(EEF1A2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs1555883505 GRCh37 Chromosome 20, 62122065: 62122065
42 EEF1A2 NM_001958.3(EEF1A2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs1555883505 GRCh38 Chromosome 20, 63490712: 63490712
43 EEF1A2 NM_001958.3(EEF1A2): c.714C> G (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh37 Chromosome 20, 62124548: 62124548
44 EEF1A2 NM_001958.3(EEF1A2): c.714C> G (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh38 Chromosome 20, 63493195: 63493195
45 EEF1A2 NM_001958.3(EEF1A2): c.447C> T (p.Ile149=) single nucleotide variant Likely benign rs772964838 GRCh37 Chromosome 20, 62126332: 62126332
46 EEF1A2 NM_001958.3(EEF1A2): c.447C> T (p.Ile149=) single nucleotide variant Likely benign rs772964838 GRCh38 Chromosome 20, 63494979: 63494979
47 EEF1A2 NM_001958.3(EEF1A2): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs371263699 GRCh37 Chromosome 20, 62127314: 62127314
48 EEF1A2 NM_001958.3(EEF1A2): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs371263699 GRCh38 Chromosome 20, 63495961: 63495961
49 EEF1A2 NM_001958.3(EEF1A2): c.789C> T (p.Pro263=) single nucleotide variant Likely benign rs148075587 GRCh37 Chromosome 20, 62122072: 62122072
50 EEF1A2 NM_001958.3(EEF1A2): c.789C> T (p.Pro263=) single nucleotide variant Likely benign rs148075587 GRCh38 Chromosome 20, 63490719: 63490719

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

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