DEE52
MCID: DVL076
MIFTS: 26

Developmental and Epileptic Encephalopathy 52 (DEE52)

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 52

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 52:

Name: Developmental and Epileptic Encephalopathy 52 57 12
Epileptic Encephalopathy, Early Infantile, 52 57 72 29 6
Eiee52 57 72
Dee52 57 12
Epileptic Encephalopathy, Early Infantile, 52; Eiee52 57
Early Infantile Epileptic Encephalopathy 52 12

Characteristics:

OMIM®:

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

Miscellaneous:
death in childhood (in some patients)
seizures are refractory to treatment
onset of seizures in the first months of life


HPO:

31
developmental and epileptic encephalopathy 52:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080455
OMIM® 57 617350
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 52

OMIM® : 57 Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by Patino et al., 2009 and Ramadan et al., 2017). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome (607208), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by Patino et al., 2009). For a discussion of genetic heterogeneity of DEE, see 308350. (617350) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 52, also known as epileptic encephalopathy, early infantile, 52, is related to encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 52 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1). Affiliated tissues include brain, and related phenotypes are spasticity and abnormal pyramidal sign

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has material basis in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 52: 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. EIEE52 inheritance is autosomal recessive.

Related Diseases for Developmental and Epileptic Encephalopathy 52

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

Diseases related to Developmental and Epileptic Encephalopathy 52 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 10.0

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 52

Human phenotypes related to Developmental and Epileptic Encephalopathy 52:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 abnormal pyramidal sign 31 HP:0007256
3 global developmental delay 31 HP:0001263
4 developmental stagnation 31 HP:0007281
5 generalized hypotonia 31 HP:0001290
6 limb ataxia 31 HP:0002070
7 epileptic encephalopathy 31 HP:0200134
8 atypical absence seizure 31 HP:0007270
9 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
10 generalized myoclonic seizure 31 HP:0002123
11 focal hemiclonic seizure 31 HP:0006813

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
limb ataxia
epileptic encephalopathy
febrile seizures
hemiclonic seizures
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
myopathic facies

Clinical features from OMIM®:

617350 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 52

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 52

Genetic Tests for Developmental and Epileptic Encephalopathy 52

Genetic tests related to Developmental and Epileptic Encephalopathy 52:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 52 29 SCN1B

Anatomical Context for Developmental and Epileptic Encephalopathy 52

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 52:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 52

Articles related to Developmental and Epileptic Encephalopathy 52:

(showing 6, show less)
# Title Authors PMID Year
1
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. 6 57
28218389 2017
2
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. 6 57
23148524 2012
3
A functional null mutation of SCN1B in a patient with Dravet syndrome. 57 6
19710327 2009
4
Do mutations in SCN1B cause Dravet syndrome? 57
23182416 2013
5
Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. 57
15102918 2004
6
Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52. 61
32979291 2020

Variations for Developmental and Epileptic Encephalopathy 52

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 52:

6 (showing 12, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1B NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) SNV Pathogenic 375686 rs1135401736 GRCh37: 19:35524568-35524568
GRCh38: 19:35033664-35033664
2 SCN1B NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe) SNV Pathogenic 375687 rs931949929 GRCh37: 19:35524511-35524511
GRCh38: 19:35033607-35033607
3 SCN1B NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp) SNV Pathogenic 694618 rs1600364712 GRCh37: 19:35524550-35524550
GRCh38: 19:35033646-35033646
4 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His) SNV Pathogenic 60767 rs16969925 GRCh37: 19:35524449-35524449
GRCh38: 19:35033545-35033545
5 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Likely pathogenic 9252 rs104894718 GRCh37: 19:35524558-35524558
GRCh38: 19:35033654-35033654
6 SCN1B NM_001037.5(SCN1B):c.449-2A>G SNV Likely pathogenic 694617 rs1600370558 GRCh37: 19:35530019-35530019
GRCh38: 19:35039115-35039115
7 SCN1B NM_001037.5(SCN1B):c.*13G>A SNV Uncertain significance 452814 rs1555721564 GRCh37: 19:35530708-35530708
GRCh38: 19:35039804-35039804
8 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu) SNV Uncertain significance 619998 GRCh37: 19:35524542-35524542
GRCh38: 19:35033638-35033638
9 SCN1B NM_001037.5(SCN1B):c.448+193G>A SNV Uncertain significance 190847 rs66876876 GRCh37: 19:35524836-35524836
GRCh38: 19:35033932-35033932
10 SCN1B NM_001037.5(SCN1B):c.134G>A (p.Arg45His) SNV Uncertain significance 190857 rs180943300 GRCh37: 19:35523525-35523525
GRCh38: 19:35032621-35032621
11 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) SNV Uncertain significance 190870 rs786205834 GRCh37: 19:35521762-35521762
GRCh38: 19:35030858-35030858
12 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) SNV Uncertain significance 565664 rs1568348711 GRCh37: 19:35523549-35523549
GRCh38: 19:35032645-35032645

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 52:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Arg125Cys VAR_078020 rs113540173

Expression for Developmental and Epileptic Encephalopathy 52

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 52.

Pathways for Developmental and Epileptic Encephalopathy 52

GO Terms for Developmental and Epileptic Encephalopathy 52

Sources for Developmental and Epileptic Encephalopathy 52

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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