EIEE65
MCID: EPL224
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 65 (EIEE65)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73 29 6
Eiee65 56 73
Early Infantile Epileptic Encephalopathy 65 12

Characteristics:

OMIM:

56
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)


HPO:

31
epileptic encephalopathy, early infantile, 65:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 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 : 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, eye and bone, 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 : 56 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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 65

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

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
absent speech
epileptic encephalopathy
enlarged ventricles
more
Head And Neck Eyes:
arched eyebrows

Head And Neck Head:
microcephaly, progressive

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

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

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 65:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 65 29 CYFIP2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 65

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

40
Brain, Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 65

Articles related to Epileptic Encephalopathy, Early Infantile, 65:

# Title Authors PMID Year
1
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 56 6
29534297 2018
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 65

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYFIP2 NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)SNV Pathogenic/Likely pathogenic 430807 rs1131692231 5:156721843-156721843 5:157294834-157294834
2 CYFIP2 NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu)SNV Likely pathogenic 545427 rs1554108163 5:156721844-156721844 5:157294835-157294835
3 CYFIP2 NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro)SNV Likely pathogenic 545429 rs1554108163 5:156721844-156721844 5:157294835-157294835
4 CYFIP2 NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)SNV Likely pathogenic 802171 5:156721843-156721843 5:157294834-157294834
5 CYFIP2 NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp)SNV Likely pathogenic 807590 5:156746817-156746817 5:157319809-157319809

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

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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