EIEE52
MCID: EPL179
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 52 (EIEE52)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 52

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 52:

Name: Epileptic Encephalopathy, Early Infantile, 52 57 74 29 6
Eiee52 57 74
Early Infantile Epileptic Encephalopathy 52 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life
seizures are refractory to treatment
two unrelated patients have been reported (last curated february 2017)


HPO:

32
epileptic encephalopathy, early infantile, 52:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080455
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 52

OMIM : 57 EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (617350)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 52, is also known as eiee52. An important gene associated with Epileptic Encephalopathy, Early Infantile, 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 An early infantile 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 : 74 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 Epileptic Encephalopathy, Early Infantile, 52

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 52

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 52:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 abnormal pyramidal sign 32 HP:0007256
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 generalized myoclonic seizures 32 HP:0002123
6 developmental stagnation 32 HP:0007281
7 limb ataxia 32 HP:0002070
8 epileptic encephalopathy 32 HP:0200134
9 febrile seizures 32 HP:0002373
10 atypical absence seizure 32 HP:0007270
11 hemiclonic seizures 32 HP:0006813

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
limb ataxia
epileptic encephalopathy
febrile seizures
myoclonic seizures
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617350

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 52

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 52

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 52

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 52:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 52

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 52:

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 52

Articles related to Epileptic Encephalopathy, Early Infantile, 52:

# Title Authors PMID Year
1
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. 8 71
23148524 2012
2
A functional null mutation of SCN1B in a patient with Dravet syndrome. 8 71
19710327 2009
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Do mutations in SCN1B cause Dravet syndrome? 8
23182416 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
6
Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. 8
15102918 2004

Variations for Epileptic Encephalopathy, Early Infantile, 52

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 52:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs1135401736 19:35524568-35524568 19:35033664-35033664
2 SCN1B NM_001037.5(SCN1B): c.316A> T (p.Ile106Phe) single nucleotide variant Pathogenic rs931949929 19:35524511-35524511 19:35033607-35033607
3 SCN1B NM_001037.5(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 19:35524449-35524449 19:35033545-35033545
4 SCN1B NM_001037.5(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 19:35524558-35524558 19:35033654-35033654
5 SCN1B NM_001037.5(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 19:35524836-35524836 19:35033932-35033932
6 SCN1B NM_001037.5(SCN1B): c.158C> A (p.Thr53Asn) single nucleotide variant Uncertain significance 19:35523549-35523549 19:35032645-35032645
7 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance 19:35524542-35524542 19:35033638-35033638
8 SCN1B NM_001037.5(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 19:35521762-35521762 19:35030858-35030858
9 SCN1B NM_001037.5(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 19:35523525-35523525 19:35032621-35032621

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 52:

74
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Arg125Cys VAR_078020 rs113540173

Expression for Epileptic Encephalopathy, Early Infantile, 52

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 52.

Pathways for Epileptic Encephalopathy, Early Infantile, 52

GO Terms for Epileptic Encephalopathy, Early Infantile, 52

Sources for Epileptic Encephalopathy, Early Infantile, 52

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....