EIEE65
MCID: EPL224
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 65 (EIEE65)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 6
Eiee65 58 76
Early Infantile Epileptic Encephalopathy 65 12

Characteristics:

OMIM:

58
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 : 76 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

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by various types of intractable seizures starting by 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has material basis in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.

OMIM : 58 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 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, 65

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 spasticity 33 HP:0001257
3 hyperreflexia 33 HP:0001347
4 absent speech 33 HP:0001344
5 ventriculomegaly 33 HP:0002119
6 epileptic encephalopathy 33 HP:0200134
7 hypsarrhythmia 33 HP:0002521
8 cerebellar atrophy 33 HP:0001272
9 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
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:

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 65

Articles related to Epileptic Encephalopathy, Early Infantile, 65:

# Title Authors Year
1
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. ( 29534297 )
2018

Variations for Epileptic Encephalopathy, Early Infantile, 65

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

76
# Symbol AA change Variation ID SNP ID
1 CYFIP2 p.Arg87Cys VAR_080817 rs113169223
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_001037333.3(CYFIP2): c.259C> T (p.Arg87Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1131692231 GRCh37 Chromosome 5, 156721843: 156721843
2 CYFIP2 NM_001037333.3(CYFIP2): c.259C> T (p.Arg87Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1131692231 GRCh38 Chromosome 5, 157294834: 157294834
3 CYFIP2 NM_001037333.3(CYFIP2): c.260G> T (p.Arg87Leu) single nucleotide variant Likely pathogenic rs1554108163 GRCh38 Chromosome 5, 157294835: 157294835
4 CYFIP2 NM_001037333.3(CYFIP2): c.260G> T (p.Arg87Leu) single nucleotide variant Likely pathogenic rs1554108163 GRCh37 Chromosome 5, 156721844: 156721844
5 CYFIP2 NM_001037333.3(CYFIP2): c.260G> C (p.Arg87Pro) single nucleotide variant Likely pathogenic rs1554108163 GRCh38 Chromosome 5, 157294835: 157294835
6 CYFIP2 NM_001037333.3(CYFIP2): c.260G> C (p.Arg87Pro) single nucleotide variant Likely pathogenic rs1554108163 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
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10 dbSNP
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17 EFO
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33 HPO
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35 ICD10 via Orphanet
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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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