EIEE40
MCID: EPL177
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 40 (EIEE40)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 40

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 40:

Name: Epileptic Encephalopathy, Early Infantile, 40 58 76 30 6
Eiee40 58 76
Early Infantile Epileptic Encephalopathy 40 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in early infancy
one consanguineous algerian family has been reported (last curated august 2016)


HPO:

33
epileptic encephalopathy, early infantile, 40:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 40

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 40: 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. EIEE40 inheritance is autosomal recessive.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 40, is also known as eiee40. An important gene associated with Epileptic Encephalopathy, Early Infantile, 40 is GUF1 (GUF1 Homolog, GTPase). Affiliated tissues include eye and liver, and related phenotypes are seizures and spasticity

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.

Description from OMIM: 617065

Related Diseases for Epileptic Encephalopathy, Early Infantile, 40

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, 40

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 40:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 spasticity 33 HP:0001257
3 myoclonus 33 HP:0001336
4 cerebral cortical atrophy 33 HP:0002120
5 epileptic encephalopathy 33 HP:0200134
6 hypsarrhythmia 33 HP:0002521
7 intellectual disability, profound 33 HP:0002187
8 choreoathetosis 33 HP:0001266

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
myoclonus
epileptic encephalopathy
hypsarrhythmia
choreoathetosis
more
Head And Neck Eyes:
poor or absent eye contact

Muscle Soft Tissue:
hypotonia, axial

Clinical features from OMIM:

617065

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 40

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 40

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 40

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 40:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 40 30 GUF1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 40

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 40:

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 40

Articles related to Epileptic Encephalopathy, Early Infantile, 40:

# Title Authors Year
1
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. ( 26486472 )
2016

Variations for Epileptic Encephalopathy, Early Infantile, 40

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 40:

76
# Symbol AA change Variation ID SNP ID
1 GUF1 p.Ala609Ser VAR_077804 rs879255631

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 40:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GUF1 NM_021927.2(GUF1): c.1825G> T (p.Ala609Ser) single nucleotide variant Pathogenic rs879255631 GRCh37 Chromosome 4, 44697741: 44697741
2 GUF1 NM_021927.2(GUF1): c.1825G> T (p.Ala609Ser) single nucleotide variant Pathogenic rs879255631 GRCh38 Chromosome 4, 44695724: 44695724

Expression for Epileptic Encephalopathy, Early Infantile, 40

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 40.

Pathways for Epileptic Encephalopathy, Early Infantile, 40

GO Terms for Epileptic Encephalopathy, Early Infantile, 40

Sources for Epileptic Encephalopathy, Early Infantile, 40

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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