EIEE58
MCID: EPL215
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 58 (EIEE58)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 58

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 58:

Name: Epileptic Encephalopathy, Early Infantile, 58 58 76 30 6
Eiee58 58 76
Early Infantile Epileptic Encephalopathy 58 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of seizures in the first days or months of life
four unrelated patients have been reported (last curated january 2018)


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 58

OMIM : 58 EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life. Affected individuals have global developmental delay with intellectual disability, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity (summary by Hamdan et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (617830)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 58, is also known as eiee58. An important gene associated with Epileptic Encephalopathy, Early Infantile, 58 is NTRK2 (Neurotrophic Receptor Tyrosine Kinase 2). Affiliated tissues include liver and eye, and related phenotypes are status epilepticus and delayed myelination

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the NTRK2 gene on chromosome 9q21.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 58: 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. EIEE58 is an autosomal dominant condition characterized by onset of refractory seizures in the first days or months of life.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 58

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 58

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 58:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 status epilepticus 33 very rare (1%) HP:0002133
2 delayed myelination 33 very rare (1%) HP:0012448
3 nystagmus 33 HP:0000639
4 hyperreflexia 33 HP:0001347
5 global developmental delay 33 HP:0001263
6 visual impairment 33 HP:0000505
7 optic atrophy 33 HP:0000648
8 stereotypy 33 HP:0000733
9 intellectual disability, severe 33 HP:0010864
10 absent speech 33 HP:0001344
11 inability to walk 33 HP:0002540
12 epileptic encephalopathy 33 HP:0200134
13 hypsarrhythmia 33 HP:0002521
14 spastic diplegia 33 HP:0001264

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
visual impairment
optic nerve atrophy
poor visual fixation

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypic behaviors

Head And Neck Head:
microcephaly, acquired (in some patients)

Neurologic Central Nervous System:
spasticity
hyperreflexia
intellectual disability, severe
inability to walk
epileptic encephalopathy
more
Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

Clinical features from OMIM:

617830

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 58

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 58

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 58

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 58:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 58 30 NTRK2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 58

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 58:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 58

Articles related to Epileptic Encephalopathy, Early Infantile, 58:

# Title Authors Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. ( 29100083 )
2017

Variations for Epileptic Encephalopathy, Early Infantile, 58

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 58:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK2 NM_006180.4(NTRK2): c.1301A> G (p.Tyr434Cys) single nucleotide variant Pathogenic rs886041091 GRCh37 Chromosome 9, 87366905: 87366905
2 NTRK2 NM_006180.4(NTRK2): c.1301A> G (p.Tyr434Cys) single nucleotide variant Pathogenic rs886041091 GRCh38 Chromosome 9, 84751990: 84751990

Expression for Epileptic Encephalopathy, Early Infantile, 58

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 58.

Pathways for Epileptic Encephalopathy, Early Infantile, 58

GO Terms for Epileptic Encephalopathy, Early Infantile, 58

Sources for Epileptic Encephalopathy, Early Infantile, 58

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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