EIEE57
MCID: EPL213
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 57 (EIEE57)

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, 57

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

Name: Epileptic Encephalopathy, Early Infantile, 57 57 75 6
Eiee57 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 57:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 57

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include liver and eye, and related phenotypes are developmental regression and global developmental delay

Description from OMIM: 617771

Related Diseases for Epileptic Encephalopathy, Early Infantile, 57

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, 57

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental regression
hypsarrhythmia
atypical absence seizures
epileptic encephalopathy
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617771

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 developmental regression 32 HP:0002376
2 global developmental delay 32 HP:0001263
3 generalized myoclonic seizures 32 HP:0002123
4 hypoplasia of the corpus callosum 32 HP:0002079
5 hypsarrhythmia 32 HP:0002521
6 atypical absence seizures 32 HP:0007270
7 epileptic encephalopathy 32 HP:0200134

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

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 57:

41
Liver, Eye

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:

75
# Symbol AA change Variation ID SNP ID
1 KCNT2 p.Phe240Leu VAR_080867

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 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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