DEE40
MCID: DVL065
MIFTS: 23

Developmental and Epileptic Encephalopathy 40 (DEE40)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 40

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 40:

Name: Developmental and Epileptic Encephalopathy 40 57 12
Epileptic Encephalopathy, Early Infantile, 40 57 72 29 6
Eiee40 57 72
Dee40 57 12
Epileptic Encephalopathy, Early Infantile, 40; Eiee40 57
Early Infantile Epileptic Encephalopathy 40 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life (4-5 months)
one consanguineous algerian family has been reported (last curated august 2016)


HPO:

31
developmental and epileptic encephalopathy 40:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 40

OMIM® : 57 Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by Alfaiz et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617065) (Updated 20-May-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 40, is also known as epileptic encephalopathy, early infantile, 40. An important gene associated with Developmental and Epileptic Encephalopathy 40 is GUF1 (GTP Binding Elongation Factor GUF1). Affiliated tissues include eye and liver, and related phenotypes are spasticity and myoclonus

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

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 40

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 94
Developmental and Epileptic Encephalopathy 17 Developmental and Epileptic Encephalopathy 18
Developmental and Epileptic Encephalopathy 19 Developmental and Epileptic Encephalopathy 21
Developmental and Epileptic Encephalopathy 23 Developmental and Epileptic Encephalopathy 24
Developmental and Epileptic Encephalopathy 26 Developmental and Epileptic Encephalopathy 27
Developmental and Epileptic Encephalopathy 28 Developmental and Epileptic Encephalopathy 29
Developmental and Epileptic Encephalopathy 30 Developmental and Epileptic Encephalopathy 31
Developmental and Epileptic Encephalopathy 32 Developmental and Epileptic Encephalopathy 33
Developmental and Epileptic Encephalopathy 50 Developmental and Epileptic Encephalopathy 34
Developmental and Epileptic Encephalopathy 35 Developmental and Epileptic Encephalopathy 37
Developmental and Epileptic Encephalopathy 38 Developmental and Epileptic Encephalopathy 40
Developmental and Epileptic Encephalopathy 41 Developmental and Epileptic Encephalopathy 42
Developmental and Epileptic Encephalopathy 43 Developmental and Epileptic Encephalopathy 44
Developmental and Epileptic Encephalopathy 45 Developmental and Epileptic Encephalopathy 46
Developmental and Epileptic Encephalopathy 47 Developmental and Epileptic Encephalopathy 48
Developmental and Epileptic Encephalopathy 49 Developmental and Epileptic Encephalopathy 51
Developmental and Epileptic Encephalopathy 52 Developmental and Epileptic Encephalopathy 53
Developmental and Epileptic Encephalopathy 54 Developmental and Epileptic Encephalopathy 55
Developmental and Epileptic Encephalopathy 56 Developmental and Epileptic Encephalopathy 91
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 92
Developmental and Epileptic Encephalopathy 58 Developmental and Epileptic Encephalopathy 59
Developmental and Epileptic Encephalopathy 60 Developmental and Epileptic Encephalopathy 61
Developmental and Epileptic Encephalopathy 62 Developmental and Epileptic Encephalopathy 63
Developmental and Epileptic Encephalopathy 64 Developmental and Epileptic Encephalopathy 65
Developmental and Epileptic Encephalopathy 93 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89 Developmental and Epileptic Encephalopathy 6b

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 40

Human phenotypes related to Developmental and Epileptic Encephalopathy 40:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
myoclonus
absent speech
choreoathetosis
epileptic encephalopathy
more
Head And Neck Eyes:
poor or absent eye contact

Clinical features from OMIM®:

617065 (Updated 20-May-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 40

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 40

Genetic Tests for Developmental and Epileptic Encephalopathy 40

Genetic tests related to Developmental and Epileptic Encephalopathy 40:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 40 29 GUF1

Anatomical Context for Developmental and Epileptic Encephalopathy 40

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 40:

40
Eye, Liver

Publications for Developmental and Epileptic Encephalopathy 40

Articles related to Developmental and Epileptic Encephalopathy 40:

# Title Authors PMID Year
1
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 6 57
26486472 2016

Variations for Developmental and Epileptic Encephalopathy 40

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 40:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GUF1 NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser) SNV Pathogenic 253096 rs879255631 GRCh37: 4:44697741-44697741
GRCh38: 4:44695724-44695724
2 GUF1 NM_021927.3(GUF1):c.1873-1G>A SNV Pathogenic 1033576 GRCh37: 4:44700560-44700560
GRCh38: 4:44698543-44698543
3 GUF1 NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg) SNV Uncertain significance 1030774 GRCh37: 4:44700622-44700622
GRCh38: 4:44698605-44698605
4 GUF1 NM_021927.3(GUF1):c.1954G>A (p.Val652Ile) SNV Uncertain significance 1030775 GRCh37: 4:44700642-44700642
GRCh38: 4:44698625-44698625

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 40:

72
# Symbol AA change Variation ID SNP ID
1 GUF1 p.Ala609Ser VAR_077804 rs879255631

Expression for Developmental and Epileptic Encephalopathy 40

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 40.

Pathways for Developmental and Epileptic Encephalopathy 40

GO Terms for Developmental and Epileptic Encephalopathy 40

Sources for Developmental and Epileptic Encephalopathy 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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