EIEE52
MCID: EPL179
MIFTS: 22

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 58 76 30 6
Eiee52 58 76
Early Infantile Epileptic Encephalopathy 52 12

Characteristics:

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 52:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 52

OMIM : 58 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

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 : 76 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 52

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 global developmental delay 33 HP:0001263
3 generalized myoclonic seizures 33 HP:0002123
4 developmental stagnation 33 HP:0007281
5 limb ataxia 33 HP:0002070
6 febrile seizures 33 HP:0002373
7 generalized hypotonia 33 HP:0001290
8 epileptic encephalopathy 33 HP:0200134
9 hemiclonic seizures 33 HP:0006813
10 abnormal pyramidal sign 33 HP:0007256
11 atypical absence seizure 33 HP:0007270

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
limb ataxia
febrile seizures
atypical absence seizures
epileptic encephalopathy
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 30 SCN1B

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 52

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

42
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:

76
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Arg125Cys VAR_078020 rs113540173

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
7 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 35033638: 35033638
8 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 35524542: 35524542

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

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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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