MCID: EPL224
MIFTS: 16

Epileptic Encephalopathy, Early Infantile, 65

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 65

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 65:

Name: Epileptic Encephalopathy, Early Infantile, 65 57 6
Eiee65 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of seizures in the first months of life
patients are bedridden
seizures are usually refractory to treatment
four unrelated patients have been reported (last curated june 2018)


Classifications:



External Ids:

OMIM 57 618008

Summaries for Epileptic Encephalopathy, Early Infantile, 65

OMIM : 57 Early infantile epileptic encephalopathy-65 is characterized by onset of intractable seizures of various types within 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618008)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 65, is also known as eiee65. An important gene associated with Epileptic Encephalopathy, Early Infantile, 65 is CYFIP2 (Cytoplasmic FMR1 Interacting Protein 2). Affiliated tissues include brain.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 65

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
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, 65

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
absent speech
epileptic encephalopathy
enlarged ventricles
more
Head And Neck Eyes:
arched eyebrows

Growth Other:
poor overall growth

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, progressive

Head And Neck Mouth:
thick gums
tented lip
thick lip


Clinical features from OMIM:

618008

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 65

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 65

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 65

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 65

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 65:

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 65

Variations for Epileptic Encephalopathy, Early Infantile, 65

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 65:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYFIP2 NM_001037333.2(CYFIP2): c.259C> T (p.Arg87Cys) single nucleotide variant Uncertain significance rs1131692231 GRCh37 Chromosome 5, 156721843: 156721843
2 CYFIP2 NM_001037333.2(CYFIP2): c.259C> T (p.Arg87Cys) single nucleotide variant Uncertain significance rs1131692231 GRCh38 Chromosome 5, 157294834: 157294834
3 CYFIP2 NM_001037333.2(CYFIP2): c.260G> T (p.Arg87Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 156721844: 156721844
4 CYFIP2 NM_001037333.2(CYFIP2): c.260G> T (p.Arg87Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 157294835: 157294835
5 CYFIP2 NM_001037333.2(CYFIP2): c.260G> C (p.Arg87Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 157294835: 157294835
6 CYFIP2 NM_001037333.2(CYFIP2): c.260G> C (p.Arg87Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 156721844: 156721844

Expression for Epileptic Encephalopathy, Early Infantile, 65

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 65.

Pathways for Epileptic Encephalopathy, Early Infantile, 65

GO Terms for Epileptic Encephalopathy, Early Infantile, 65

Sources for Epileptic Encephalopathy, Early Infantile, 65

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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