EIEE67
MCID: EPL229
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 67 (EIEE67)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 67

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 67:

Name: Epileptic Encephalopathy, Early Infantile, 67 58 76 6
Eiee67 58 76

Characteristics:

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 67:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 67

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 67, is also known as eiee67. An important gene associated with Epileptic Encephalopathy, Early Infantile, 67 is CUX2 (Cut Like Homeobox 2). Affiliated tissues include eye and liver, and related phenotypes are hypsarrhythmia and gait disturbance

Description from OMIM: 618141

Related Diseases for Epileptic Encephalopathy, Early Infantile, 67

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 67

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 67:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypsarrhythmia 33 very rare (1%) HP:0002521
2 gait disturbance 33 HP:0001288
3 global developmental delay 33 HP:0001263
4 dyskinesia 33 HP:0100660
5 generalized myoclonic seizures 33 HP:0002123
6 epileptic encephalopathy 33 HP:0200134
7 absence seizure 33 HP:0002121
8 athetosis 33 HP:0002305

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
dyskinesia
epileptic encephalopathy
athetosis
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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 67

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 67

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 67

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 67

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 67:

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 67

Articles related to Epileptic Encephalopathy, Early Infantile, 67:

# Title Authors Year
1
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. ( 29795476 )
2018
2
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. ( 29630738 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 67

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 67:

76
# Symbol AA change Variation ID SNP ID
1 CUX2 p.Glu590Lys VAR_081600

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 67:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CUX2 NM_015267.3(CUX2): c.1768G> A (p.Glu590Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 111748354: 111748354
2 CUX2 NM_015267.3(CUX2): c.1768G> A (p.Glu590Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 111310550: 111310550

Expression for Epileptic Encephalopathy, Early Infantile, 67

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 67.

Pathways for Epileptic Encephalopathy, Early Infantile, 67

GO Terms for Epileptic Encephalopathy, Early Infantile, 67

Sources for Epileptic Encephalopathy, Early Infantile, 67

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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