EIEE57
MCID: EPL213
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 57 (EIEE57)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 57

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 57:

Name: Epileptic Encephalopathy, Early Infantile, 57 58 76 6
Eiee57 58 76
Early Infantile Epileptic Encephalopathy 57 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
one patient has been reported (last curated november 2017)


HPO:

33
epileptic encephalopathy, early infantile, 57:
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080284
OMIM 58 617771
MeSH 45 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 57

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 57: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE57 is an autosomal dominant condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 57, is also known as eiee57. An important gene associated with Epileptic Encephalopathy, Early Infantile, 57 is KCNT2 (Potassium Sodium-Activated Channel Subfamily T Member 2). Related phenotypes are developmental regression and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the KCNT2 gene on chromosome 1q31.

Description from OMIM: 617771

Related Diseases for Epileptic Encephalopathy, Early Infantile, 57

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, 57

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 57:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 developmental regression 33 HP:0002376
2 global developmental delay 33 HP:0001263
3 generalized myoclonic seizures 33 HP:0002123
4 hypoplasia of the corpus callosum 33 HP:0002079
5 hypsarrhythmia 33 HP:0002521
6 epileptic encephalopathy 33 HP:0200134
7 atypical absence seizure 33 HP:0007270

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
developmental regression
hypsarrhythmia
atypical absence seizures
epileptic encephalopathy
myoclonic seizures
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617771

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 57

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 57

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 57

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 57

Publications for Epileptic Encephalopathy, Early Infantile, 57

Variations for Epileptic Encephalopathy, Early Infantile, 57

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 57:

76
# Symbol AA change Variation ID SNP ID
1 KCNT2 p.Phe240Leu VAR_080867 rs106049953

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 57:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNT2 NM_001287820.2(KCNT2): c.720T> A (p.Phe240Leu) single nucleotide variant Pathogenic rs1060499537 GRCh37 Chromosome 1, 196398806: 196398806
2 KCNT2 NM_001287820.2(KCNT2): c.720T> A (p.Phe240Leu) single nucleotide variant Pathogenic rs1060499537 GRCh38 Chromosome 1, 196429676: 196429676

Expression for Epileptic Encephalopathy, Early Infantile, 57

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 57.

Pathways for Epileptic Encephalopathy, Early Infantile, 57

GO Terms for Epileptic Encephalopathy, Early Infantile, 57

Sources for Epileptic Encephalopathy, Early Infantile, 57

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
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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