EIEE40
MCID: EPL177
MIFTS: 20

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 57 74 29 6
Eiee40 57 74
Early Infantile Epileptic Encephalopathy 40 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080427
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 40

UniProtKB/Swiss-Prot : 74 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 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.

More information from OMIM: 617065 PS308350

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 40

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 myoclonus 32 HP:0001336
4 cerebral cortical atrophy 32 HP:0002120
5 epileptic encephalopathy 32 HP:0200134
6 hypsarrhythmia 32 HP:0002521
7 intellectual disability, profound 32 HP:0002187
8 choreoathetosis 32 HP:0001266

Symptoms via clinical synopsis from OMIM:

57
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 29 GUF1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 40

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

41
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 40

Articles related to Epileptic Encephalopathy, Early Infantile, 40:

# Title Authors PMID Year
1
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 8 71
26486472 2016
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 40

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GUF1 NM_021927.3(GUF1): c.1825G> T (p.Ala609Ser) single nucleotide variant Pathogenic rs879255631 4:44697741-44697741 4:44695724-44695724

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

74
# Symbol AA change Variation ID SNP ID
1 GUF1 p.Ala609Ser VAR_077804 rs879255631

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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