EIEE40
MCID: EPL177
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 40 (EIEE40)

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, 40

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

Name: Epileptic Encephalopathy, Early Infantile, 40 57 75 29 6
Eiee40 57 75

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:



Summaries for Epileptic Encephalopathy, Early Infantile, 40

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 617065

Related Diseases for Epileptic Encephalopathy, Early Infantile, 40

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, 40

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
myoclonus
choreoathetosis
hypsarrhythmia
epileptic encephalopathy
more
Head And Neck Eyes:
poor or absent eye contact

Muscle Soft Tissue:
hypotonia, axial


Clinical features from OMIM:

617065

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 intellectual disability, profound 32 HP:0002187
6 choreoathetosis 32 HP:0001266
7 hypsarrhythmia 32 HP:0002521
8 epileptic encephalopathy 32 HP:0200134

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, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 40

Variations for Epileptic Encephalopathy, Early Infantile, 40

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

75
# 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 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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