MCID: EPL215
MIFTS: 17

Epileptic Encephalopathy, Early Infantile, 58

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, 58

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

Name: Epileptic Encephalopathy, Early Infantile, 58 57 75 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:



External Ids:

OMIM 57 617830
MedGen 42 CN757795
MeSH 44 D013036

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).

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
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

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 58

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

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10 dbSNP
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17 ExPASy
19 FMA
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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44 MeSH
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49 NCI
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54 NINDS
55 Novoseek
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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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