MCID: EPL156
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 33

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 33

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

Name: Epileptic Encephalopathy, Early Infantile, 33 57 75 29 6
Eiee33 57 75
Encephalopathy, Epileptic, Early Infantile, Type 33 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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

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 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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 33

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 neonatal hypotonia 32 HP:0001319
4 aggressive behavior 32 HP:0000718
5 postnatal microcephaly 32 HP:0005484
6 unsteady gait 32 HP:0002317
7 hypsarrhythmia 32 HP:0002521
8 epileptic encephalopathy 32 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 29 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:

75
# 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 72)
# 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.208G> A (p.Gly70Ser) single nucleotide variant Pathogenic rs587777162 GRCh38 Chromosome 20, 63495972: 63495972
3 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh37 Chromosome 20, 62126415: 62126415
4 EEF1A2 NM_001958.3(EEF1A2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs786205866 GRCh38 Chromosome 20, 63495062: 63495062
5 EEF1A2 NM_001958.3(EEF1A2): c.1296G> A (p.Thr432=) single nucleotide variant Benign rs200259257 GRCh37 Chromosome 20, 62119747: 62119747
6 EEF1A2 NM_001958.3(EEF1A2): c.1296G> A (p.Thr432=) single nucleotide variant Benign rs200259257 GRCh38 Chromosome 20, 63488394: 63488394
7 EEF1A2 NM_001958.3(EEF1A2): c.924C> T (p.Val308=) single nucleotide variant Likely benign rs779912733 GRCh37 Chromosome 20, 62121937: 62121937
8 EEF1A2 NM_001958.3(EEF1A2): c.924C> T (p.Val308=) single nucleotide variant Likely benign rs779912733 GRCh38 Chromosome 20, 63490584: 63490584
9 EEF1A2 NM_001958.3(EEF1A2): c.375G> A (p.Ala125=) single nucleotide variant Benign rs2274861 GRCh38 Chromosome 20, 63495051: 63495051
10 EEF1A2 NM_001958.3(EEF1A2): c.375G> A (p.Ala125=) single nucleotide variant Benign rs2274861 GRCh37 Chromosome 20, 62126404: 62126404
11 EEF1A2 NM_001958.3(EEF1A2): c.1335C> T (p.Ser445=) single nucleotide variant Benign rs372257864 GRCh37 Chromosome 20, 62119708: 62119708
12 EEF1A2 NM_001958.3(EEF1A2): c.1335C> T (p.Ser445=) single nucleotide variant Benign rs372257864 GRCh38 Chromosome 20, 63488355: 63488355
13 EEF1A2 NM_001958.3(EEF1A2): c.1263C> T (p.Leu421=) single nucleotide variant Benign rs115107511 GRCh37 Chromosome 20, 62120272: 62120272
14 EEF1A2 NM_001958.3(EEF1A2): c.1263C> T (p.Leu421=) single nucleotide variant Benign rs115107511 GRCh38 Chromosome 20, 63488919: 63488919
15 EEF1A2 NM_001958.3(EEF1A2): c.1030-8G> A single nucleotide variant Benign rs112283537 GRCh37 Chromosome 20, 62120513: 62120513
16 EEF1A2 NM_001958.3(EEF1A2): c.1030-8G> A single nucleotide variant Benign rs112283537 GRCh38 Chromosome 20, 63489160: 63489160
17 EEF1A2 NM_001958.3(EEF1A2): c.807C> T (p.Thr269=) single nucleotide variant Likely benign rs147062680 GRCh37 Chromosome 20, 62122054: 62122054
18 EEF1A2 NM_001958.3(EEF1A2): c.807C> T (p.Thr269=) single nucleotide variant Likely benign rs147062680 GRCh38 Chromosome 20, 63490701: 63490701
19 EEF1A2 NM_001958.3(EEF1A2): c.714C> T (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh37 Chromosome 20, 62124548: 62124548
20 EEF1A2 NM_001958.3(EEF1A2): c.714C> T (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh38 Chromosome 20, 63493195: 63493195
21 EEF1A2 NM_001958.3(EEF1A2): c.672C> T (p.Ser224=) single nucleotide variant Benign/Likely benign rs200051020 GRCh37 Chromosome 20, 62124590: 62124590
22 EEF1A2 NM_001958.3(EEF1A2): c.672C> T (p.Ser224=) single nucleotide variant Benign/Likely benign rs200051020 GRCh38 Chromosome 20, 63493237: 63493237
23 EEF1A2 NM_001958.3(EEF1A2): c.357C> T (p.Gly119=) single nucleotide variant Likely benign rs143241534 GRCh37 Chromosome 20, 62126422: 62126422
24 EEF1A2 NM_001958.3(EEF1A2): c.357C> T (p.Gly119=) single nucleotide variant Likely benign rs143241534 GRCh38 Chromosome 20, 63495069: 63495069
25 EEF1A2 NM_001958.3(EEF1A2): c.237G> A (p.Lys79=) single nucleotide variant Benign rs61737389 GRCh37 Chromosome 20, 62127296: 62127296
26 EEF1A2 NM_001958.3(EEF1A2): c.237G> A (p.Lys79=) single nucleotide variant Benign rs61737389 GRCh38 Chromosome 20, 63495943: 63495943
27 EEF1A2 NM_001958.3(EEF1A2): c.1320C> T (p.Asn440=) single nucleotide variant Benign/Likely benign rs367803280 GRCh37 Chromosome 20, 62119723: 62119723
28 EEF1A2 NM_001958.3(EEF1A2): c.1320C> T (p.Asn440=) single nucleotide variant Benign/Likely benign rs367803280 GRCh38 Chromosome 20, 63488370: 63488370
29 EEF1A2 NM_001958.3(EEF1A2): c.1266C> A (p.Gly422=) single nucleotide variant Benign rs202102758 GRCh38 Chromosome 20, 63488424: 63488424
30 EEF1A2 NM_001958.3(EEF1A2): c.1266C> A (p.Gly422=) single nucleotide variant Benign rs202102758 GRCh37 Chromosome 20, 62119777: 62119777
31 EEF1A2 NM_001958.3(EEF1A2): c.621+9C> T single nucleotide variant Likely benign rs758255976 GRCh38 Chromosome 20, 63494796: 63494796
32 EEF1A2 NM_001958.3(EEF1A2): c.621+9C> T single nucleotide variant Likely benign rs758255976 GRCh37 Chromosome 20, 62126149: 62126149
33 EEF1A2 NM_001958.3(EEF1A2): c.1030-10C> A single nucleotide variant Benign rs571276508 GRCh37 Chromosome 20, 62120515: 62120515
34 EEF1A2 NM_001958.3(EEF1A2): c.1030-10C> A single nucleotide variant Benign rs571276508 GRCh38 Chromosome 20, 63489162: 63489162
35 EEF1A2 NM_001958.3(EEF1A2): c.1265-9_1265-3dupGCCCCCC duplication Likely benign rs760400114 GRCh38 Chromosome 20, 63488428: 63488434
36 EEF1A2 NM_001958.3(EEF1A2): c.1265-9_1265-3dupGCCCCCC duplication Likely benign rs760400114 GRCh37 Chromosome 20, 62119781: 62119787
37 EEF1A2 NM_001958.3(EEF1A2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 62122065: 62122065
38 EEF1A2 NM_001958.3(EEF1A2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 63490712: 63490712
39 EEF1A2 NM_001958.3(EEF1A2): c.714C> G (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh37 Chromosome 20, 62124548: 62124548
40 EEF1A2 NM_001958.3(EEF1A2): c.714C> G (p.Pro238=) single nucleotide variant Likely benign rs557317848 GRCh38 Chromosome 20, 63493195: 63493195
41 EEF1A2 NM_001958.3(EEF1A2): c.447C> T (p.Ile149=) single nucleotide variant Likely benign rs772964838 GRCh37 Chromosome 20, 62126332: 62126332
42 EEF1A2 NM_001958.3(EEF1A2): c.447C> T (p.Ile149=) single nucleotide variant Likely benign rs772964838 GRCh38 Chromosome 20, 63494979: 63494979
43 EEF1A2 NM_001958.3(EEF1A2): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs371263699 GRCh38 Chromosome 20, 63495961: 63495961
44 EEF1A2 NM_001958.3(EEF1A2): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs371263699 GRCh37 Chromosome 20, 62127314: 62127314
45 EEF1A2 NM_001958.3(EEF1A2): c.789C> T (p.Pro263=) single nucleotide variant Likely benign rs148075587 GRCh37 Chromosome 20, 62122072: 62122072
46 EEF1A2 NM_001958.3(EEF1A2): c.789C> T (p.Pro263=) single nucleotide variant Likely benign rs148075587 GRCh38 Chromosome 20, 63490719: 63490719
47 EEF1A2 NM_001958.3(EEF1A2): c.626C> T (p.Pro209Leu) single nucleotide variant Uncertain significance rs768753735 GRCh37 Chromosome 20, 62124636: 62124636
48 EEF1A2 NM_001958.3(EEF1A2): c.626C> T (p.Pro209Leu) single nucleotide variant Uncertain significance rs768753735 GRCh38 Chromosome 20, 63493283: 63493283
49 EEF1A2 NM_001958.3(EEF1A2): c.1296G> T (p.Thr432=) single nucleotide variant Likely benign rs200259257 GRCh38 Chromosome 20, 63488394: 63488394
50 EEF1A2 NM_001958.3(EEF1A2): c.1296G> T (p.Thr432=) single nucleotide variant Likely benign rs200259257 GRCh37 Chromosome 20, 62119747: 62119747

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

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