EIEE18
MCID: EPL102
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 18 (EIEE18)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 74
Early Infantile Epileptic Encephalopathy 18 12 54 30 6
Eiee18 58 76
Encephalopathy, Epileptic, Early Infantile, Type 18 41

Characteristics:

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 18:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 18

OMIM : 58 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 Subunit Of KICSTOR Complex). Affiliated tissues include brain, and related phenotypes are ptosis and eeg abnormality

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has material basis in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 76 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 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, 18

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 eeg abnormality 33 HP:0002353
3 global developmental delay 33 HP:0001263
4 downslanted palpebral fissures 33 HP:0000494
5 high forehead 33 HP:0000348
6 hyporeflexia 33 HP:0001265
7 highly arched eyebrow 33 HP:0002553
8 generalized hypotonia 33 HP:0001290
9 epileptic encephalopathy 33 HP:0200134
10 thick corpus callosum 33 HP:0007074
11 focal-onset seizure 33 HP:0007359
12 absence seizure 33 HP:0002121

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SZT2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 18

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

42
Brain

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:

76
# 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 22)
# 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_655del (p.Asp220Profs) deletion Likely pathogenic rs756942804 GRCh38 Chromosome 1, 43415983: 43415984
10 SZT2 NM_015284.3(SZT2): c.654_655del (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 rs1553149451 GRCh37 Chromosome 1, 43895495: 43895495
12 SZT2 NM_015284.3(SZT2): c.4117G> A (p.Ala1373Thr) single nucleotide variant not provided rs1553149451 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 rs1553138869 GRCh38 Chromosome 1, 43404550: 43404550
18 SZT2 NM_015284.3(SZT2): c.498G> T (p.Gln166His) single nucleotide variant Uncertain significance rs1553138869 GRCh37 Chromosome 1, 43870221: 43870221
19 SZT2 NM_015284.3(SZT2): c.4172G> A (p.Arg1391His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 43430045: 43430045
20 SZT2 NM_015284.3(SZT2): c.4172G> A (p.Arg1391His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43895716: 43895716
21 SZT2 NM_015284.3(SZT2): c.2929+15C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 43891635: 43891635
22 SZT2 NM_015284.3(SZT2): c.2929+15C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 43425964: 43425964

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

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10 dbSNP
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17 EFO
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63 PubMed
65 QIAGEN
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71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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