EIEE15
MCID: EPL099
MIFTS: 27

Epileptic Encephalopathy, Early Infantile, 15 (EIEE15)

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, 15

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

Name: Epileptic Encephalopathy, Early Infantile, 15 57 75 13 73
Early Infantile Epileptic Encephalopathy 15 29 6
Eiee15 57 75
Early Infantile Epileptic Encephalopathy with Suppression Bursts 73
Encephalopathy, Epileptic, Early Infantile, Type 15 40
X-Linked Infantile Spasm Syndrome 73

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 15:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 15

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 615006

Related Diseases for Epileptic Encephalopathy, Early Infantile, 15

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, 15

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
irritability

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

Clinical features from OMIM:

615006

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 irritability 32 HP:0000737
3 inability to walk 32 HP:0002540
4 intellectual disability, profound 32 HP:0002187
5 generalized hypotonia 32 HP:0001290
6 hypsarrhythmia 32 HP:0002521
7 epileptic encephalopathy 32 HP:0200134
8 central hypotonia 32 HP:0011398
9 epileptic spasms 32 HP:0011097
10 poor eye contact 32 HP:0000817
11 primitive reflex 32 HP:0002476

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 29 ST3GAL3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 15

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

41
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 15

Articles related to Epileptic Encephalopathy, Early Infantile, 15:

# Title Authors Year
1
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
2
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
3
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
4
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
5
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:

75
# 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 ST3GAL3, ALA320PRO single nucleotide variant Pathogenic

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 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
38 LifeMap
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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