DEE67
MCID: DVL091
MIFTS: 26

Developmental and Epileptic Encephalopathy 67 (DEE67)

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 67

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 67:

Name: Developmental and Epileptic Encephalopathy 67 57 12
Developmental and Epileptic Encephalopathy, 67 29 6
Epileptic Encephalopathy, Early Infantile, 67 57 72
Eiee67 57 72
Dee67 57 12
Epileptic Encephalopathy, Early Infantile, 67; Eiee67 57
Early Infantile Epileptic Encephalopathy 67 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
later onset of seizures in childhood may occur in some patients
seizure frequency may decrease with age


HPO:

31
developmental and epileptic encephalopathy 67:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 67

OMIM® : 57 Developmental and epileptic encephalopathy-67 (DEE67) is characterized by the onset of various types of seizures in the first months of life, although later onset may occur in milder cases. The seizures tend to be resistant to treatment. Affected individuals have global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior (summary by Chatron et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618141) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 67, also known as developmental and epileptic encephalopathy, 67, is related to thrombocythemia 1 and essential thrombocythemia. An important gene associated with Developmental and Epileptic Encephalopathy 67 is CUX2 (Cut Like Homeobox 2). Affiliated tissues include eye, and related phenotypes are hypsarrhythmia and gait disturbance

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has material basis in heterozygous mutation in CUX2 on chromosome 12q24.11-q24.12.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 67: 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. EIEE67 is an autosomal dominant form characterized by onset of seizures in infancy. Later onset of seizures in childhood may occur in some patients.

Related Diseases for Developmental and Epileptic Encephalopathy 67

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 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

Diseases related to Developmental and Epileptic Encephalopathy 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 9.6 SH2B3 CUX2
2 essential thrombocythemia 9.5 SH2B3 CUX2

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 67

Human phenotypes related to Developmental and Epileptic Encephalopathy 67:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 hypsarrhythmia 31 very rare (1%) HP:0002521
2 gait disturbance 31 HP:0001288
3 global developmental delay 31 HP:0001263
4 dyskinesia 31 HP:0100660
5 poor eye contact 31 HP:0000817
6 athetosis 31 HP:0002305
7 epileptic encephalopathy 31 HP:0200134
8 generalized myoclonic seizure 31 HP:0002123
9 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
dyskinesia
athetosis
epileptic encephalopathy
myoclonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements
autistic features (in some patients)

Head And Neck Eyes:
poor eye contact

Clinical features from OMIM®:

618141 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 67

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 67

Genetic Tests for Developmental and Epileptic Encephalopathy 67

Genetic tests related to Developmental and Epileptic Encephalopathy 67:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 67 29 CUX2

Anatomical Context for Developmental and Epileptic Encephalopathy 67

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 67:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 67

Articles related to Developmental and Epileptic Encephalopathy 67:

(showing 5, show less)
# Title Authors PMID Year
1
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 6 57
29795476 2018
2
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 6 57
29630738 2018
3
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 57 6
28628100 2017
4
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 6 57
23020937 2012
5
De novo mutations in epileptic encephalopathies. 57
23934111 2013

Variations for Developmental and Epileptic Encephalopathy 67

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 67:

6 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CUX2 NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) SNV Likely pathogenic 585015 GRCh37: 12:111748354-111748354
GRCh38: 12:111310550-111310550
2 CUX2 NM_015267.4(CUX2):c.1795C>A (p.Arg599Ser) SNV Uncertain significance 982591 GRCh37: 12:111748381-111748381
GRCh38: 12:111310577-111310577
3 CUX2 NM_015267.4(CUX2):c.1922G>A (p.Arg641His) SNV Uncertain significance 996834 GRCh37: 12:111749925-111749925
GRCh38: 12:111312121-111312121
4 CUX2 , SH2B3 NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) SNV Uncertain significance 30445 rs202080221 GRCh37: 12:111856571-111856571
GRCh38: 12:111418767-111418767

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 67:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CUX2 p.Glu590Lys VAR_081600 rs156590933

Expression for Developmental and Epileptic Encephalopathy 67

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 67.

Pathways for Developmental and Epileptic Encephalopathy 67

GO Terms for Developmental and Epileptic Encephalopathy 67

Sources for Developmental and Epileptic Encephalopathy 67

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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