EIEE58
MCID: EPL215
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 58 (EIEE58)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75 29 6
Eiee58 57 75

Characteristics:

OMIM:

57
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 : 57 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 nystagmus and hyperreflexia

UniProtKB/Swiss-Prot : 75 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 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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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, 58

Symptoms via clinical synopsis from OMIM:

57
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
spastic diplegia
more
Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth


Clinical features from OMIM:

617830

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 hyperreflexia 32 HP:0001347
3 global developmental delay 32 HP:0001263
4 visual impairment 32 HP:0000505
5 optic atrophy 32 HP:0000648
6 stereotypy 32 HP:0000733
7 intellectual disability, severe 32 HP:0010864
8 absent speech 32 HP:0001344
9 inability to walk 32 HP:0002540
10 status epilepticus 32 very rare (1%) HP:0002133
11 spastic diplegia 32 HP:0001264
12 hypsarrhythmia 32 HP:0002521
13 epileptic encephalopathy 32 HP:0200134
14 delayed myelination 32 very rare (1%) HP:0012448

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 29 NTRK2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 58

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

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 58

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 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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