DEE33
MCID: DVL059
MIFTS: 34

Developmental and Epileptic Encephalopathy 33 (DEE33)

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 33

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 33:

Name: Developmental and Epileptic Encephalopathy 33 57 12
Epileptic Encephalopathy, Early Infantile, 33 57 73 29 6
Early Infantile Epileptic Encephalopathy 33 12 15
Eiee33 57 73
Dee33 57 12
Epileptic Encephalopathy, Early Infantile, 33; Eiee33 57
Encephalopathy, Epileptic, Early Infantile, Type 33 39

Characteristics:

OMIM®:

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

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080463
OMIM® 57 616409
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 33

OMIM® : 57 Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by de Ligt et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616409) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 33, also known as epileptic encephalopathy, early infantile, 33, is related to familial apolipoprotein c-ii deficiency and developmental and epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 33 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2), and among its related pathways/superpathways are Toxoplasmosis and RNA transport. Related phenotypes are global developmental delay and neonatal hypotonia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has material basis in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 33

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

Diseases related to Developmental and Epileptic Encephalopathy 33 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial apolipoprotein c-ii deficiency 9.8 EEF1A2 EEF1A1
2 developmental and epileptic encephalopathy 9.6 KCNQ2-AS1 EEF1A2
3 undetermined early-onset epileptic encephalopathy 9.6 KCNQ2-AS1 EEF1A2
4 early infantile epileptic encephalopathy 9.5 KCNQ2-AS1 EEF1A2
5 ohtahara syndrome 9.4 KCNQ2-AS1 EEF1A2

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 33:



Diseases related to Developmental and Epileptic Encephalopathy 33

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 33

Human phenotypes related to Developmental and Epileptic Encephalopathy 33:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 neonatal hypotonia 31 HP:0001319
3 absent speech 31 HP:0001344
4 postnatal microcephaly 31 HP:0005484
5 aggressive behavior 31 HP:0000718
6 unsteady gait 31 HP:0002317
7 hypsarrhythmia 31 HP:0002521
8 epileptic encephalopathy 31 HP:0200134
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 33

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 33

Genetic Tests for Developmental and Epileptic Encephalopathy 33

Genetic tests related to Developmental and Epileptic Encephalopathy 33:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 33 29 EEF1A2

Anatomical Context for Developmental and Epileptic Encephalopathy 33

Publications for Developmental and Epileptic Encephalopathy 33

Articles related to Developmental and Epileptic Encephalopathy 33:

# Title Authors PMID Year
1
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6 57
23647072 2013
2
Diagnostic exome sequencing in persons with severe intellectual disability. 6 57
23033978 2012
3
Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review. 61
31477274 2020

Variations for Developmental and Epileptic Encephalopathy 33

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 33:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EEF1A2 NM_001958.4(EEF1A2):c.208G>A (p.Gly70Ser) SNV Pathogenic 100782 rs587777162 20:62127325-62127325 20:63495972-63495972
2 EEF1A2 NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) SNV Pathogenic/Likely pathogenic 192252 20:62126415-62126415 20:63495062-63495062
3 KCNQ2-AS1 NC_000020.11:g.(?_63438605)_(63488445_?)del Deletion Likely pathogenic 530655 20:62069958-62119798 20:63438605-63488445
4 EEF1A2 NM_001958.4(EEF1A2):c.1150G>C (p.Gly384Arg) SNV Likely pathogenic 542650 rs1555883384 20:62120385-62120385 20:63489032-63489032
5 EEF1A2 NM_001958.4(EEF1A2):c.821C>T (p.Pro274Leu) SNV Likely pathogenic 620070 20:62122040-62122040 20:63490687-63490687
6 EEF1A2 NM_001958.4(EEF1A2):c.796C>T (p.Arg266Trp) SNV Likely pathogenic 449242 rs1555883505 20:62122065-62122065 20:63490712-63490712
7 EEF1A2 NM_001958.4(EEF1A2):c.863A>G (p.Glu288Gly) SNV Likely pathogenic 567537 rs1555883501 20:62121998-62121998 20:63490645-63490645
8 EEF1A2 NM_001958.4(EEF1A2):c.1267C>T (p.Arg423Cys) SNV Likely pathogenic 265111 rs886039346 20:62119776-62119776 20:63488423-63488423
9 EEF1A2 NM_001958.4(EEF1A2):c.271G>A (p.Asp91Asn) SNV Likely pathogenic 279803 rs886041197 20:62127262-62127262 20:63495909-63495909
10 EEF1A2 NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His) SNV Likely pathogenic 975543 20:62120397-62120397 20:63489044-63489044
11 EEF1A2 NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu) SNV Likely pathogenic 870132 20:62129071-62129071 20:63497718-63497718
12 EEF1A2 NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) SNV Likely pathogenic 280924 rs886042041 20:62126409-62126409 20:63495056-63495056
13 EEF1A2 NM_001958.4(EEF1A2):c.205C>T (p.Arg69Cys) SNV Likely pathogenic 542651 rs1555883869 20:62127328-62127328 20:63495975-63495975
14 EEF1A2 NM_001958.4(EEF1A2):c.1141C>T (p.Arg381Trp) SNV Conflicting interpretations of pathogenicity 577676 rs1568994522 20:62120394-62120394 20:63489041-63489041
15 EEF1A2 NM_001958.4(EEF1A2):c.796C>T (p.Arg266Trp) SNV Conflicting interpretations of pathogenicity 449242 rs1555883505 20:62122065-62122065 20:63490712-63490712
16 EEF1A2 NM_001958.4(EEF1A2):c.1165G>A (p.Asp389Asn) SNV Uncertain significance 567322 rs1568994517 20:62120370-62120370 20:63489017-63489017
17 EEF1A2 NM_001958.4(EEF1A2):c.532A>T (p.Ile178Phe) SNV Uncertain significance 625937 rs765056369 20:62126247-62126247 20:63494894-63494894
18 EEF1A2 NM_001958.4(EEF1A2):c.782C>T (p.Thr261Met) SNV Uncertain significance 452319 rs1555883506 20:62122079-62122079 20:63490726-63490726
19 EEF1A2 NM_001958.4(EEF1A2):c.620A>G (p.Asn207Ser) SNV Uncertain significance 639681 rs1184871645 20:62126159-62126159 20:63494806-63494806
20 EEF1A2 NM_001958.4(EEF1A2):c.363C>T (p.Gly121=) SNV Uncertain significance 648795 rs746290505 20:62126416-62126416 20:63495063-63495063
21 EEF1A2 NM_001958.4(EEF1A2):c.571G>A (p.Val191Met) SNV Uncertain significance 649863 rs1600907642 20:62126208-62126208 20:63494855-63494855
22 EEF1A2 NM_001958.4(EEF1A2):c.480_481delinsAA (p.Ala161Thr) Indel Uncertain significance 657517 rs1600907762 20:62126298-62126299 20:63494945-63494946
23 EEF1A2 NM_001958.4(EEF1A2):c.971A>G (p.Asn324Ser) SNV Uncertain significance 658339 rs1600903430 20:62121890-62121890 20:63490537-63490537
24 EEF1A2 NM_001958.4(EEF1A2):c.1050G>A (p.Pro350=) SNV Uncertain significance 659503 rs1222452639 20:62120485-62120485 20:63489132-63489132
25 EEF1A2 NM_001958.4(EEF1A2):c.1029+3G>T SNV Uncertain significance 510868 rs111392970 20:62121829-62121829 20:63490476-63490476
26 EEF1A2 NM_001958.4(EEF1A2):c.626C>T (p.Pro209Leu) SNV Uncertain significance 476037 rs768753735 20:62124636-62124636 20:63493283-63493283
27 EEF1A2 NM_001958.4(EEF1A2):c.137C>T (p.Ala46Val) SNV Uncertain significance 476033 rs1555883973 20:62128980-62128980 20:63497627-63497627
28 EEF1A2 NM_001958.5(EEF1A2):c.506A>G (p.Glu169Gly) SNV Uncertain significance 952533 20:62126273-62126273 20:63494920-63494920
29 EEF1A2 NM_001958.5(EEF1A2):c.1129_1131del (p.Glu377del) Deletion Uncertain significance 955929 20:62120404-62120406 20:63489051-63489053
30 EEF1A2 NM_001958.5(EEF1A2):c.400C>T (p.Arg134Trp) SNV Uncertain significance 956154 20:62126379-62126379 20:63495026-63495026
31 EEF1A2 NM_001958.5(EEF1A2):c.1064C>T (p.Ala355Val) SNV Uncertain significance 957741 20:62120471-62120471 20:63489118-63489118
32 EEF1A2 NM_001958.5(EEF1A2):c.505G>A (p.Glu169Lys) SNV Uncertain significance 967313 20:62126274-62126274 20:63494921-63494921
33 EEF1A2 NM_001958.5(EEF1A2):c.1196C>A (p.Ala399Glu) SNV Uncertain significance 968763 20:62120339-62120339 20:63488986-63488986
34 EEF1A2 NM_001958.5(EEF1A2):c.536A>G (p.Lys179Arg) SNV Uncertain significance 968948 20:62126243-62126243 20:63494890-63494890
35 EEF1A2 NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) SNV Uncertain significance 803625 rs993963334 20:62124546-62124546 20:63493193-63493193
36 EEF1A2 NC_000020.11:g.(?_63493117)_(63528152_?)del Deletion Uncertain significance 831837 20:62124470-62159505
37 EEF1A2 NM_001958.5(EEF1A2):c.1264+6C>T SNV Uncertain significance 840436 20:62120265-62120265 20:63488912-63488912
38 EEF1A2 NM_001958.5(EEF1A2):c.288C>T (p.Arg96=) SNV Uncertain significance 843084 20:62127245-62127245 20:63495892-63495892
39 EEF1A2 NM_001958.4(EEF1A2):c.354G>A (p.Ala118=) SNV Uncertain significance 518122 rs143957818 20:62126425-62126425 20:63495072-63495072
40 EEF1A2 NM_001958.5(EEF1A2):c.487A>G (p.Ser163Gly) SNV Uncertain significance 848460 20:62126292-62126292 20:63494939-63494939
41 EEF1A2 NM_001958.5(EEF1A2):c.842C>T (p.Ala281Val) SNV Uncertain significance 852167 20:62122019-62122019 20:63490666-63490666
42 EEF1A2 NM_001958.5(EEF1A2):c.49G>C (p.Asp17His) SNV Uncertain significance 830075 20:62129068-62129068 20:63497715-63497715
43 EEF1A2 NM_001958.4(EEF1A2):c.1366_1374CAGAAGGCG[1] (p.456_458QKA[1]) Microsatellite Uncertain significance 252597 rs879255373 20:62119660-62119668 20:63488307-63488315
44 EEF1A2 NM_001958.4(EEF1A2):c.1382C>T (p.Ala461Val) SNV Uncertain significance 384354 rs757556226 20:62119661-62119661 20:63488308-63488308
45 EEF1A2 NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg) SNV Uncertain significance 864342 20:62119708-62119708 20:63488355-63488355
46 EEF1A2 NM_001958.4(EEF1A2):c.194C>T (p.Ala65Val) SNV Uncertain significance 569837 rs1238718880 20:62127339-62127339 20:63495986-63495986
47 EEF1A2 NM_001958.4(EEF1A2):c.621C>T (p.Asn207=) SNV Uncertain significance 580255 rs544401782 20:62126158-62126158 20:63494805-63494805
48 EEF1A2 NM_001958.4(EEF1A2):c.40G>A (p.Gly14Ser) SNV Uncertain significance 581903 rs750037735 20:62129077-62129077 20:63497724-63497724
49 EEF1A2 NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile) SNV Uncertain significance 982593 20:62126314-62126314 20:63494961-63494961
50 EEF1A2 NM_001958.4(EEF1A2):c.739C>T (p.Arg247Cys) SNV Uncertain significance 589089 rs1325353717 20:62124523-62124523 20:63493170-63493170

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 33:

73
# Symbol AA change Variation ID SNP ID
1 EEF1A2 p.Gly70Ser VAR_069395 rs587777162

Expression for Developmental and Epileptic Encephalopathy 33

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 33.

Pathways for Developmental and Epileptic Encephalopathy 33

Pathways related to Developmental and Epileptic Encephalopathy 33 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 EEF1A2 EEF1A1
2 11.43 EEF1A2 EEF1A1
3
Show member pathways
10.74 EEF1A2 EEF1A1
4 10.38 EEF1A2 EEF1A1

GO Terms for Developmental and Epileptic Encephalopathy 33

Cellular components related to Developmental and Epileptic Encephalopathy 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of lysosomal membrane GO:0098574 8.96 EEF1A2 EEF1A1
2 eukaryotic translation elongation factor 1 complex GO:0005853 8.62 EEF1A2 EEF1A1

Biological processes related to Developmental and Epileptic Encephalopathy 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.16 EEF1A2 EEF1A1
2 translational elongation GO:0006414 8.96 EEF1A2 EEF1A1
3 regulation of chaperone-mediated autophagy GO:1904714 8.62 EEF1A2 EEF1A1

Molecular functions related to Developmental and Epileptic Encephalopathy 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.26 EEF1A2 EEF1A1
2 GTP binding GO:0005525 9.16 EEF1A2 EEF1A1
3 GTPase activity GO:0003924 8.96 EEF1A2 EEF1A1
4 translation elongation factor activity GO:0003746 8.62 EEF1A2 EEF1A1

Sources for Developmental and Epileptic Encephalopathy 33

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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