EIEE40
MCID: EPL177
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 40 (EIEE40)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73 29 6
Eiee40 56 73
Early Infantile Epileptic Encephalopathy 40 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epileptic encephalopathy, early infantile, 40:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 40

UniProtKB/Swiss-Prot : 73 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, bone 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.

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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 40

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 spasticity 31 HP:0001257
3 cerebral cortical atrophy 31 HP:0002120
4 myoclonus 31 HP:0001336
5 epileptic encephalopathy 31 HP:0200134
6 hypsarrhythmia 31 HP:0002521
7 choreoathetosis 31 HP:0001266
8 intellectual disability, profound 31 HP:0002187

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, Bone, Liver

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. 56 6
26486472 2016
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 40

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUF1 NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)SNV Pathogenic 253096 rs879255631 4:44697741-44697741 4:44695724-44695724

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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