EIEE52
MCID: EPL179
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 52 (EIEE52)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73 29 6
Eiee52 56 73
Early Infantile Epileptic Encephalopathy 52 12

Characteristics:

OMIM:

56
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:

31
epileptic encephalopathy, early infantile, 52:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080455
OMIM 56 617350
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 52

OMIM : 56 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, eye and bone, 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 : 73 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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 52

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

31 (show all 11)
# 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 generalized hypotonia 31 HP:0001290
5 generalized myoclonic seizures 31 HP:0002123
6 developmental stagnation 31 HP:0007281
7 limb ataxia 31 HP:0002070
8 epileptic encephalopathy 31 HP:0200134
9 febrile seizures 31 HP:0002373
10 atypical absence seizure 31 HP:0007270
11 hemiclonic seizures 31 HP:0006813

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
limb ataxia
epileptic encephalopathy
febrile seizures
hemiclonic 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:

40
Brain, Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 52

Articles related to Epileptic Encephalopathy, Early Infantile, 52:

# Title Authors PMID Year
1
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. 56 6
28218389 2017
2
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. 56 6
23148524 2012
3
A functional null mutation of SCN1B in a patient with Dravet syndrome. 56 6
19710327 2009
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
5
Do mutations in SCN1B cause Dravet syndrome? 56
23182416 2013
6
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
7
Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. 56
15102918 2004

Variations for Epileptic Encephalopathy, Early Infantile, 52

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

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His)SNV Pathogenic 60767 rs16969925 19:35524449-35524449 19:35033545-35033545
2 SCN1B NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)SNV Pathogenic 375686 rs1135401736 19:35524568-35524568 19:35033664-35033664
3 SCN1B NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe)SNV Pathogenic 375687 rs931949929 19:35524511-35524511 19:35033607-35033607
4 SCN1B NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp)SNV Pathogenic 694618 19:35524550-35524550 19:35033646-35033646
5 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)SNV Pathogenic/Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
6 SCN1B NM_001037.5(SCN1B):c.448+193G>ASNV Conflicting interpretations of pathogenicity 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
7 SCN1B NM_001037.5(SCN1B):c.449-2A>GSNV Conflicting interpretations of pathogenicity 694617 19:35530019-35530019 19:35039115-35039115
8 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)SNV Uncertain significance 190870 rs786205834 19:35521762-35521762 19:35030858-35030858
9 SCN1B NM_001037.5(SCN1B):c.134G>A (p.Arg45His)SNV Uncertain significance 190857 rs180943300 19:35523525-35523525 19:35032621-35032621
10 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)SNV Uncertain significance 565664 rs1568348711 19:35523549-35523549 19:35032645-35032645
11 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)SNV Uncertain significance 619998 rs1555720743 19:35524542-35524542 19:35033638-35033638

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

73
# 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

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