DEE65
MCID: DVL089
MIFTS: 26

Developmental and Epileptic Encephalopathy 65 (DEE65)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 65

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 65:

Name: Developmental and Epileptic Encephalopathy 65 57 12
Developmental and Epileptic Encephalopathy, 65 29 6
Epileptic Encephalopathy, Early Infantile, 65 57 73
Eiee65 57 73
Dee65 57 12
Epileptic Encephalopathy, Early Infantile, 65; Eiee65 57
Encephalopathy, Epileptic, Early Infantile, Type 65 39
Early Infantile Epileptic Encephalopathy 65 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset of seizures in the first months or years of life
seizures are usually refractory to treatment


HPO:

31
developmental and epileptic encephalopathy 65:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 65

UniProtKB/Swiss-Prot : 73 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 : Developmental and Epileptic Encephalopathy 65, is also known as developmental and epileptic encephalopathy, 65. An important gene associated with Developmental and Epileptic Encephalopathy 65 is CYFIP2 (Cytoplasmic FMR1 Interacting Protein 2). Affiliated tissues include brain, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, 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® : 57 Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, 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 DEE, see 308350. (618008) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 65

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 65

Human phenotypes related to Developmental and Epileptic Encephalopathy 65:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 absent speech 31 HP:0001344
4 highly arched eyebrow 31 HP:0002553
5 ventriculomegaly 31 HP:0002119
6 cerebellar atrophy 31 HP:0001272
7 cerebral atrophy 31 HP:0002059
8 generalized hypotonia 31 HP:0001290
9 hypsarrhythmia 31 HP:0002521
10 epileptic encephalopathy 31 HP:0200134
11 progressive microcephaly 31 HP:0000253
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
absent speech
epileptic encephalopathy
hypotonia
more
Growth Other:
poor overall growth

Head And Neck Mouth:
thick gums
tented lip
thick lip

Head And Neck Eyes:
visual impairment
optic atrophy
strabismus
arched eyebrows

Head And Neck Head:
microcephaly, progressive

Clinical features from OMIM®:

618008 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 65

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 65

Genetic Tests for Developmental and Epileptic Encephalopathy 65

Genetic tests related to Developmental and Epileptic Encephalopathy 65:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 65 29 CYFIP2

Anatomical Context for Developmental and Epileptic Encephalopathy 65

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 65:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 65

Articles related to Developmental and Epileptic Encephalopathy 65:

# Title Authors PMID Year
1
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. 6 57
30664714 2019
2
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 6 57
29534297 2018

Variations for Developmental and Epileptic Encephalopathy 65

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 65:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYFIP2 NM_001037333.3(CYFIP2):c.3594+1G>T SNV Pathogenic 973747 5:156817677-156817677 5:157390669-157390669
2 CYFIP2 NM_001037333.3(CYFIP2):c.2099A>G (p.Gln700Arg) SNV Pathogenic 973748 5:156755000-156755000 5:157327992-157327992
3 CYFIP2 NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys) SNV Pathogenic 973750 5:156752582-156752582 5:157325574-157325574
4 CYFIP2 NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His) SNV Pathogenic 973753 5:156723717-156723717 5:157296709-157296709
5 CYFIP2 NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met) SNV Pathogenic 973749 5:156752581-156752581 5:157325573-157325573
6 CYFIP2 NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro) SNV Pathogenic 973751 5:156746776-156746776 5:157319768-157319768
7 CYFIP2 NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His) SNV Pathogenic 973752 5:156754996-156754996 5:157327988-157327988
8 CYFIP2 NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) SNV Pathogenic/Likely pathogenic 430807 rs1131692231 5:156721843-156721843 5:157294834-157294834
9 CYFIP2 NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) SNV Likely pathogenic 545429 rs1554108163 5:156721844-156721844 5:157294835-157294835
10 CYFIP2 NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) SNV Likely pathogenic 545427 rs1554108163 5:156721844-156721844 5:157294835-157294835
11 CYFIP2 NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) SNV Likely pathogenic 802171 rs1131692231 5:156721843-156721843 5:157294834-157294834
12 CYFIP2 NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) SNV Likely pathogenic 807590 rs971284726 5:156746817-156746817 5:157319809-157319809
13 CYFIP2 NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) SNV Likely pathogenic 827782 rs1581069143 5:156754996-156754996 5:157327988-157327988
14 CYFIP2 NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) SNV Likely pathogenic 827810 rs1581069148 5:156754997-156754997 5:157327989-157327989

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 65:

73
# Symbol AA change Variation ID SNP ID
1 CYFIP2 p.Arg87Cys VAR_080817 rs113169223
2 CYFIP2 p.Arg87Leu VAR_080818 rs155410816
3 CYFIP2 p.Arg87Pro VAR_080819 rs155410816

Expression for Developmental and Epileptic Encephalopathy 65

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 65.

Pathways for Developmental and Epileptic Encephalopathy 65

GO Terms for Developmental and Epileptic Encephalopathy 65

Sources for Developmental and Epileptic Encephalopathy 65

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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