DEE18
MCID: DVL046
MIFTS: 27

Developmental and Epileptic Encephalopathy 18 (DEE18)

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 18

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 18:

Name: Developmental and Epileptic Encephalopathy 18 57 12
Early Infantile Epileptic Encephalopathy 18 12 20 29 6
Epileptic Encephalopathy, Early Infantile, 18 57 73
Dee18 57 12
Epileptic Encephalopathy, Early Infantile, 18; Eiee1 57
Encephalopathy, Epileptic, Early Infantile, Type 18 39
Eiee18 73
Eiee1 57

Characteristics:

OMIM®:

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

Miscellaneous:
delayed psychomotor development apparent in infancy
seizure onset in first months or years of life


HPO:

31
developmental and epileptic encephalopathy 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080413
OMIM® 57 615476
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 18

OMIM® : 57 Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a 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 DEE, see 308350. (615476) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 18, also known as early infantile epileptic encephalopathy 18, is related to developmental and epileptic encephalopathy 1, and has symptoms including absence seizures An important gene associated with Developmental and Epileptic Encephalopathy 18 is SZT2 (SZT2 Subunit Of KICSTOR Complex). Related phenotypes are eeg abnormality and ptosis

Disease Ontology : 12 A developmental and 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 : 73 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 Developmental and Epileptic Encephalopathy 18

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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 1 11.3

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 18

Human phenotypes related to Developmental and Epileptic Encephalopathy 18:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 ptosis 31 HP:0000508
3 global developmental delay 31 HP:0001263
4 downslanted palpebral fissures 31 HP:0000494
5 highly arched eyebrow 31 HP:0002553
6 high forehead 31 HP:0000348
7 hyporeflexia 31 HP:0001265
8 generalized hypotonia 31 HP:0001290
9 focal-onset seizure 31 HP:0007359
10 epileptic encephalopathy 31 HP:0200134
11 thick corpus callosum 31 HP:0007074
12 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
downslanting palpebral fissures
arched eyebrows
laterally placed eyebrows

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Face:
high forehead

Neurologic Central Nervous System:
absence seizures
hypotonia
generalized seizures
eeg abnormalities
lack of psychomotor development
more

Clinical features from OMIM®:

615476 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 18:


absence seizures

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 18

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 18

Genetic Tests for Developmental and Epileptic Encephalopathy 18

Genetic tests related to Developmental and Epileptic Encephalopathy 18:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 18

Publications for Developmental and Epileptic Encephalopathy 18

Articles related to Developmental and Epileptic Encephalopathy 18:

# Title Authors PMID Year
1
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. 57 6
23932106 2013
2
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. 57
32402703 2020
3
SZT2 mutation in a boy with intellectual disability, seizures and autistic features. 57
30359774 2019
4
Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly. 57
31146092 2019
5
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 57
30560016 2018
6
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. 57
28556953 2018
7
Szt2, a novel gene for seizure threshold in mice. 57
19624305 2009
8
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61
29961512 2018

Variations for Developmental and Epileptic Encephalopathy 18

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 18:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SZT2 NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter) SNV Pathogenic 66996 rs397515489 1:43868893-43868893 1:43403222-43403222
2 SZT2 NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter) SNV Pathogenic 66997 rs397515490 1:43888824-43888824 1:43423153-43423153
3 SZT2 NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) SNV Pathogenic 66998 rs886041034 1:43886654-43886654 1:43420983-43420983
4 SZT2 NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) Deletion Likely pathogenic 436935 rs756942804 1:43881654-43881655 1:43415983-43415984
5 SZT2 NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) SNV Likely pathogenic 429775 rs765848129 1:43904696-43904696 1:43439025-43439025
6 SZT2 NM_001365999.1(SZT2):c.498G>T (p.Gln166His) SNV Likely pathogenic 559530 rs1553138869 1:43870221-43870221 1:43404550-43404550
7 SZT2 NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) SNV Uncertain significance 587458 rs775153972 1:43895716-43895716 1:43430045-43430045
8 SZT2 NM_001365999.1(SZT2):c.2929+15C>T SNV Uncertain significance 592148 rs1030508390 1:43891635-43891635 1:43425964-43425964
9 SZT2 NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) SNV Uncertain significance 411925 rs754599484 1:43889985-43889985 1:43424314-43424314
10 SZT2 NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) SNV Uncertain significance 411945 rs201767217 1:43893029-43893029 1:43427358-43427358
11 SZT2 NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) SNV Uncertain significance 411937 rs149741610 1:43894055-43894055 1:43428384-43428384
12 SZT2 NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys) SNV Uncertain significance 411923 rs140004653 1:43895715-43895715 1:43430044-43430044
13 SZT2 NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met) SNV Uncertain significance 411931 rs201312287 1:43896737-43896737 1:43431066-43431066
14 SZT2 NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln) SNV Uncertain significance 411948 rs201099906 1:43900872-43900872 1:43435201-43435201
15 SZT2 NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) SNV Uncertain significance 423419 rs754779853 1:43911877-43911877 1:43446206-43446206
16 SZT2 NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) SNV Uncertain significance 813940 rs201622088 1:43905659-43905659 1:43439988-43439988
17 SZT2 NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) Deletion Uncertain significance 372895 rs746200792 1:43902925-43902927 1:43437254-43437256
18 SZT2 NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp) SNV Uncertain significance 870404 1:43898447-43898447 1:43432776-43432776
19 SZT2 NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp) SNV Uncertain significance 870405 1:43881670-43881670 1:43415999-43415999
20 SZT2 NM_001365999.1(SZT2):c.772+5G>A SNV Uncertain significance 930792 1:43881777-43881777 1:43416106-43416106
21 SZT2 NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp) SNV Uncertain significance 451420 rs906119040 1:43908001-43908001 1:43442330-43442330
22 SZT2 NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) SNV Uncertain significance 652919 rs768015377 1:43890832-43890832 1:43425161-43425161
23 SZT2 NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) SNV Uncertain significance 433087 rs143880787 1:43891311-43891311 1:43425640-43425640
24 SZT2 NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) SNV Uncertain significance 487580 rs574115531 1:43888818-43888818 1:43423147-43423147
25 SZT2 NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) SNV Benign 241034 rs76675748 1:43896217-43896217 1:43430546-43430546
26 SZT2 NM_001365999.1(SZT2):c.5025-2A>G SNV not provided 598948 rs1557569831 1:43897129-43897129 1:43431458-43431458
27 EP300 NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) SNV not provided 441039 rs775368605 22:41548243-41548243 22:41152239-41152239
28 SZT2 NM_001365999.1(SZT2):c.4288G>A (p.Ala1430Thr) SNV not provided 441040 rs1553149451 1:43895495-43895495 1:43429824-43429824

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 18:

73
# Symbol AA change Variation ID SNP ID
1 SZT2 p.Ser499Ile VAR_078574 rs886041034

Expression for Developmental and Epileptic Encephalopathy 18

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 18.

Pathways for Developmental and Epileptic Encephalopathy 18

GO Terms for Developmental and Epileptic Encephalopathy 18

Sources for Developmental and Epileptic Encephalopathy 18

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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