EIEE15
MCID: EPL099
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 15 (EIEE15)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 15

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 15:

Name: Epileptic Encephalopathy, Early Infantile, 15 58 76 13 74
Early Infantile Epileptic Encephalopathy 15 12 30 6
Eiee15 58 76
Early Infantile Epileptic Encephalopathy with Suppression Bursts 74
Encephalopathy, Epileptic, Early Infantile, Type 15 41
X-Linked Infantile Spasm Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated january 2013)
onset in the first months of life (3 to 7 months)
seizures are often refractory


HPO:

33
epileptic encephalopathy, early infantile, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080414
OMIM 58 615006
MeSH 45 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 15

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 15: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 15, is also known as early infantile epileptic encephalopathy 15. An important gene associated with Epileptic Encephalopathy, Early Infantile, 15 is ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3). Affiliated tissues include eye and liver, and related phenotypes are global developmental delay and irritability

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.

Description from OMIM: 615006

Related Diseases for Epileptic Encephalopathy, Early Infantile, 15

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 15

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 15:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 irritability 33 HP:0000737
3 inability to walk 33 HP:0002540
4 epileptic encephalopathy 33 HP:0200134
5 hypsarrhythmia 33 HP:0002521
6 intellectual disability, profound 33 HP:0002187
7 generalized hypotonia 33 HP:0001290
8 central hypotonia 33 HP:0011398
9 epileptic spasms 33 HP:0011097
10 primitive reflex 33 HP:0002476
11 poor eye contact 33 HP:0000817

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
irritability

Neurologic Central Nervous System:
hypsarrhythmia
poor eye contact
hypotonia
delayed psychomotor development
mental retardation, profound
more

Clinical features from OMIM:

615006

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 15

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 15

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 15

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 15:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 15 30 ST3GAL3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 15

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 15:

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 15

Articles related to Epileptic Encephalopathy, Early Infantile, 15:

# Title Authors Year
1
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. ( 30089820 )
2018
2
West syndrome caused by ST3Gal-III deficiency. ( 23252400 )
2013
3
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
4
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
5
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
6
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
7
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999

Variations for Epileptic Encephalopathy, Early Infantile, 15

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 15:

76
# Symbol AA change Variation ID SNP ID
1 ST3GAL3 p.Ala320Pro VAR_069319

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ST3GAL3 NM_174963.4(ST3GAL3): c.1165G> C (p.Ala389Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 43920848: 43920848
2 ST3GAL3 NM_174963.4(ST3GAL3): c.1165G> C (p.Ala389Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 44386520: 44386520
3 ST3GAL3 NM_174963.4(ST3GAL3): c.1286G> A (p.Arg429Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs553120567 GRCh37 Chromosome 1, 44395844: 44395844
4 ST3GAL3 NM_174963.4(ST3GAL3): c.1286G> A (p.Arg429Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs553120567 GRCh38 Chromosome 1, 43930172: 43930172
5 ST3GAL3 NM_006279.4(ST3GAL3): c.362G> A (p.Arg121Gln) single nucleotide variant Uncertain significance rs201287443 GRCh37 Chromosome 1, 44360114: 44360114
6 ST3GAL3 NM_006279.4(ST3GAL3): c.362G> A (p.Arg121Gln) single nucleotide variant Uncertain significance rs201287443 GRCh38 Chromosome 1, 43894442: 43894442
7 ST3GAL3 NM_006279.4(ST3GAL3): c.400A> T (p.Asn134Tyr) single nucleotide variant Uncertain significance rs201834329 GRCh37 Chromosome 1, 44363909: 44363909
8 ST3GAL3 NM_006279.4(ST3GAL3): c.400A> T (p.Asn134Tyr) single nucleotide variant Uncertain significance rs201834329 GRCh38 Chromosome 1, 43898237: 43898237
9 ST3GAL3 NM_006279.4(ST3GAL3): c.1070A> T (p.Glu357Val) single nucleotide variant Uncertain significance rs141947405 GRCh38 Chromosome 1, 43930163: 43930163
10 ST3GAL3 NM_006279.4(ST3GAL3): c.1070A> T (p.Glu357Val) single nucleotide variant Uncertain significance rs141947405 GRCh37 Chromosome 1, 44395835: 44395835

Expression for Epileptic Encephalopathy, Early Infantile, 15

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 15.

Pathways for Epileptic Encephalopathy, Early Infantile, 15

GO Terms for Epileptic Encephalopathy, Early Infantile, 15

Sources for Epileptic Encephalopathy, Early Infantile, 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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