MCID: EPL179
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 52

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, 52

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

Name: Epileptic Encephalopathy, Early Infantile, 52 57 75 29 6
Eiee52 57 75

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:



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 global developmental delay

UniProtKB/Swiss-Prot : 75 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 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, 52

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

617350

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

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

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

Variations for Epileptic Encephalopathy, Early Infantile, 52

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

75
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Arg125Cys VAR_078020

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh38 Chromosome 19, 35033932: 35033932
2 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh37 Chromosome 19, 35524836: 35524836
3 SCN1B NM_001037.4(SCN1B): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs1135401736 GRCh37 Chromosome 19, 35524568: 35524568
4 SCN1B NM_001037.4(SCN1B): c.373C> T (p.Arg125Cys) single nucleotide variant Pathogenic rs1135401736 GRCh38 Chromosome 19, 35033664: 35033664
5 SCN1B NM_001037.4(SCN1B): c.316A> T (p.Ile106Phe) single nucleotide variant Pathogenic rs931949929 GRCh37 Chromosome 19, 35524511: 35524511
6 SCN1B NM_001037.4(SCN1B): c.316A> T (p.Ile106Phe) single nucleotide variant Pathogenic rs931949929 GRCh38 Chromosome 19, 35033607: 35033607

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 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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