MCID: EPL229
MIFTS: 17

Epileptic Encephalopathy, Early Infantile, 67

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, 67

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

Name: Epileptic Encephalopathy, Early Infantile, 67 57 6
Eiee67 57

Characteristics:

OMIM:

57
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


Classifications:



External Ids:

OMIM 57 618141

Summaries for Epileptic Encephalopathy, Early Infantile, 67

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.

Description from OMIM: 618141

Related Diseases for Epileptic Encephalopathy, Early Infantile, 67

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, 67

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
global developmental delay
dyskinesia
absence seizures
athetosis
epileptic encephalopathy
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:

41
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 67

Variations for Epileptic Encephalopathy, Early Infantile, 67

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 Pathogenic GRCh37 Chromosome 12, 111748354: 111748354
2 CUX2 NM_015267.3(CUX2): c.1768G> A (p.Glu590Lys) single nucleotide variant 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 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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