EIEE18
MCID: EPL102
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 18 (EIEE18)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 18

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 18:

Name: Epileptic Encephalopathy, Early Infantile, 18 57 75 73
Early Infantile Epileptic Encephalopathy 18 29 6
Eiee18 57 75
Encephalopathy, Epileptic, Early Infantile, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated october 2013)
delayed psychomotor development apparent in infancy
seizure onset in first months or years of life


HPO:

32
epileptic encephalopathy, early infantile, 18:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 18

OMIM : 57 Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (615476)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 18, is also known as early infantile epileptic encephalopathy 18, and has symptoms including absence seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 18 is SZT2 (SZT2, KICSTOR Complex Subunit). Affiliated tissues include brain, liver and eye, and related phenotypes are ptosis and eeg abnormality

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 18: A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 18

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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, 18

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
downslanting palpebral fissures
arched eyebrows
laterally placed eyebrows

Head And Neck Face:
high forehead

Neurologic Central Nervous System:
generalized seizures
absence seizures
focal seizures
hypotonia
eeg abnormalities
more
Neurologic Peripheral Nervous System:
hyporeflexia


Clinical features from OMIM:

615476

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 18:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 eeg abnormality 32 HP:0002353
3 global developmental delay 32 HP:0001263
4 absence seizures 32 HP:0002121
5 downslanted palpebral fissures 32 HP:0000494
6 high forehead 32 HP:0000348
7 hyporeflexia 32 HP:0001265
8 highly arched eyebrow 32 HP:0002553
9 generalized hypotonia 32 HP:0001290
10 epileptic encephalopathy 32 HP:0200134
11 thick corpus callosum 32 HP:0007074
12 focal-onset seizure 32 HP:0007359

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 18:


absence seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 18

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 18

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 18

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 18:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 18 29 SZT2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 18

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 18:

41
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 18

Variations for Epileptic Encephalopathy, Early Infantile, 18

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 18:

75
# Symbol AA change Variation ID SNP ID
1 SZT2 p.Ser499Ile VAR_078574 rs886041034

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 18:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SZT2 NM_015284.3(SZT2): c.73C> T (p.Arg25Ter) single nucleotide variant Pathogenic rs397515489 GRCh37 Chromosome 1, 43868893: 43868893
2 SZT2 NM_015284.3(SZT2): c.73C> T (p.Arg25Ter) single nucleotide variant Pathogenic rs397515489 GRCh38 Chromosome 1, 43403222: 43403222
3 SZT2 NM_015284.3(SZT2): c.2092C> T (p.Gln698Ter) single nucleotide variant Pathogenic rs397515490 GRCh37 Chromosome 1, 43888824: 43888824
4 SZT2 NM_015284.3(SZT2): c.2092C> T (p.Gln698Ter) single nucleotide variant Pathogenic rs397515490 GRCh38 Chromosome 1, 43423153: 43423153
5 SZT2 NM_015284.3(SZT2): c.1496G> T (p.Ser499Ile) single nucleotide variant Pathogenic rs886041034 GRCh38 Chromosome 1, 43420983: 43420983
6 SZT2 NM_015284.3(SZT2): c.1496G> T (p.Ser499Ile) single nucleotide variant Pathogenic rs886041034 GRCh37 Chromosome 1, 43886654: 43886654
7 SZT2 NM_015284.3(SZT2): c.6553C> T (p.Arg2185Trp) single nucleotide variant Likely pathogenic rs765848129 GRCh37 Chromosome 1, 43904696: 43904696
8 SZT2 NM_015284.3(SZT2): c.6553C> T (p.Arg2185Trp) single nucleotide variant Likely pathogenic rs765848129 GRCh38 Chromosome 1, 43439025: 43439025
9 SZT2 NM_015284.3(SZT2): c.654_655delAG (p.Asp220Profs) deletion Likely pathogenic rs756942804 GRCh38 Chromosome 1, 43415983: 43415984
10 SZT2 NM_015284.3(SZT2): c.654_655delAG (p.Asp220Profs) deletion Likely pathogenic rs756942804 GRCh37 Chromosome 1, 43881654: 43881655
11 SZT2 NM_015284.3(SZT2): c.4117G> A (p.Ala1373Thr) single nucleotide variant not provided GRCh37 Chromosome 1, 43895495: 43895495
12 SZT2 NM_015284.3(SZT2): c.4117G> A (p.Ala1373Thr) single nucleotide variant not provided GRCh38 Chromosome 1, 43429824: 43429824
13 EP300 NM_001429.3(EP300): c.3031G> C (p.Glu1011Gln) single nucleotide variant not provided rs775368605 GRCh38 Chromosome 22, 41152239: 41152239
14 EP300 NM_001429.3(EP300): c.3031G> C (p.Glu1011Gln) single nucleotide variant not provided rs775368605 GRCh37 Chromosome 22, 41548243: 41548243
15 SZT2 NM_015284.3(SZT2): c.2086C> T (p.Arg696Trp) single nucleotide variant Uncertain significance rs574115531 GRCh37 Chromosome 1, 43888818: 43888818
16 SZT2 NM_015284.3(SZT2): c.2086C> T (p.Arg696Trp) single nucleotide variant Uncertain significance rs574115531 GRCh38 Chromosome 1, 43423147: 43423147
17 SZT2 NM_015284.3(SZT2): c.498G> T (p.Gln166His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 43404550: 43404550
18 SZT2 NM_015284.3(SZT2): c.498G> T (p.Gln166His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43870221: 43870221

Expression for Epileptic Encephalopathy, Early Infantile, 18

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 18.

Pathways for Epileptic Encephalopathy, Early Infantile, 18

GO Terms for Epileptic Encephalopathy, Early Infantile, 18

Sources for Epileptic Encephalopathy, Early Infantile, 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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