DEE57
MCID: DVL081
MIFTS: 24

Developmental and Epileptic Encephalopathy 57 (DEE57)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 57

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 57:

Name: Developmental and Epileptic Encephalopathy 57 57 12
Developmental and Epileptic Encephalopathy, 57 29 6
Epileptic Encephalopathy, Early Infantile, 57 57 72
Early Infantile Epileptic Encephalopathy 57 12 15
Eiee57 57 72
Dee57 57 12
Epileptic Encephalopathy, Early Infantile, 57; Eiee57 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
onset of seizures in the first days or months of life


HPO:

31
developmental and epileptic encephalopathy 57:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080284
OMIM® 57 617771
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 57

OMIM® : 57 Developmental and epileptic encephalopathy-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by Ambrosino et al., 2018 and Mao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617771) (Updated 05-Apr-2021)

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

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has material basis in heterozygous mutation in the KCNT2 gene on chromosome 1q31.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 57

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 57

Human phenotypes related to Developmental and Epileptic Encephalopathy 57:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 developmental regression 31 HP:0002376
2 global developmental delay 31 HP:0001263
3 hypoplasia of the corpus callosum 31 HP:0002079
4 generalized hypotonia 31 HP:0001290
5 hypsarrhythmia 31 HP:0002521
6 epileptic encephalopathy 31 HP:0200134
7 atypical absence seizure 31 HP:0007270
8 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
developmental regression
unsteady gait
hypsarrhythmia
epileptic encephalopathy
hyperkinetic seizures
more
Head And Neck Nose:
broad nasal tip

Skin Nails Hair Hair:
hirsutism (in some patients)

Head And Neck Face:
dysmorphic facial features (in some patients)
short smooth philtrum

Head And Neck Eyes:
long eyelashes
thick eyebrows
poor visual contact (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Head And Neck Mouth:
prominent upper lip
tooth displacement

Growth Other:
poor overall growth (in some patients)

Clinical features from OMIM®:

617771 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 57

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 57

Genetic Tests for Developmental and Epileptic Encephalopathy 57

Genetic tests related to Developmental and Epileptic Encephalopathy 57:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 57 29 KCNT2

Anatomical Context for Developmental and Epileptic Encephalopathy 57

Publications for Developmental and Epileptic Encephalopathy 57

Articles related to Developmental and Epileptic Encephalopathy 57:

(showing 5, show less)
# Title Authors PMID Year
1
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy. 6 57
32773162 2020
2
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel. 57 6
32038177 2020
3
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. 6 57
29740868 2018
4
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. 6 57
29069600 2017
5
New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review. 61
32931186 2020

Variations for Developmental and Epileptic Encephalopathy 57

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 57:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNT2 NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro) SNV Pathogenic 987968 GRCh37: 1:196434492-196434492
GRCh38: 1:196465362-196465362
2 KCNT2 NM_198503.5(KCNT2):c.1690A>T (p.Lys564Ter) SNV Pathogenic 695093 rs1572096837 GRCh37: 1:196309564-196309564
GRCh38: 1:196340434-196340434
3 KCNT2 NM_198503.5(KCNT2):c.143_144del (p.Leu48fs) Deletion Pathogenic 695094 rs1572630269 GRCh37: 1:196461423-196461424
GRCh38: 1:196492293-196492294
4 KCNT2 NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu) SNV Pathogenic 236299 rs1060499537 GRCh37: 1:196398806-196398806
GRCh38: 1:196429676-196429676
5 KCNT2 NM_198503.5(KCNT2):c.569G>A (p.Arg190His) SNV Pathogenic 806297 rs1572547466 GRCh37: 1:196434492-196434492
GRCh38: 1:196465362-196465362
6 KCNT2 NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn) SNV Pathogenic 801588 rs1572418357 GRCh37: 1:196398801-196398801
GRCh38: 1:196429671-196429671
7 KCNT2 NM_198503.5(KCNT2):c.976A>G (p.Arg326Gly) SNV Uncertain significance 1027925 GRCh37: 1:196397243-196397243
GRCh38: 1:196428113-196428113
8 KCNT2 NM_198503.5(KCNT2):c.1295-18C>T SNV Uncertain significance 1033261 GRCh37: 1:196342396-196342396
GRCh38: 1:196373266-196373266

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 57:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 KCNT2 p.Phe240Leu VAR_080867 rs106049953

Expression for Developmental and Epileptic Encephalopathy 57

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 57.

Pathways for Developmental and Epileptic Encephalopathy 57

GO Terms for Developmental and Epileptic Encephalopathy 57

Sources for Developmental and Epileptic Encephalopathy 57

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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