EIEE65
MCID: EPL224
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 65 (EIEE65)

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, 65

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

Name: Epileptic Encephalopathy, Early Infantile, 65 57 75 6
Eiee65 57 75

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:



Summaries for Epileptic Encephalopathy, Early Infantile, 65

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 65: 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. EIEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay.

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, liver and eye, and related phenotypes are seizures and spasticity

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)

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
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, 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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 65:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 absent speech 32 HP:0001344
5 ventriculomegaly 32 HP:0002119
6 cerebellar atrophy 32 HP:0001272
7 cerebral atrophy 32 HP:0002059
8 hypsarrhythmia 32 HP:0002521
9 epileptic encephalopathy 32 HP:0200134

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, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 65

Variations for Epileptic Encephalopathy, Early Infantile, 65

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 65:

75
# Symbol AA change Variation ID SNP ID
1 CYFIP2 p.Arg87Cys VAR_080817
2 CYFIP2 p.Arg87Leu VAR_080818
3 CYFIP2 p.Arg87Pro VAR_080819

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 GRCh38 Chromosome 5, 157294835: 157294835
4 CYFIP2 NM_001037333.2(CYFIP2): c.260G> T (p.Arg87Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 156721844: 156721844
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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