MCID: EPL213
MIFTS: 17

Epileptic Encephalopathy, Early Infantile, 57

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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
one patient has been reported (last curated november 2017)
de novo mutation


Classifications:



External Ids:

OMIM 57 617771
MeSH 44 D013036

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).

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
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
Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
epileptic encephalopathy
delayed psychomotor development
developmental regression
seizures, intractable
tonic seizures
more

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

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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