EIEE65
MCID: EPL224
MIFTS: 22

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 57 74 29 6
Eiee65 57 74
Early Infantile Epileptic Encephalopathy 65 12

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)


HPO:

32
epileptic encephalopathy, early infantile, 65:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080430
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 65

UniProtKB/Swiss-Prot : 74 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, 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 : 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 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 65

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 hyperreflexia 32 HP:0001347
4 generalized hypotonia 32 HP:0001290
5 highly arched eyebrow 32 HP:0002553
6 absent speech 32 HP:0001344
7 ventriculomegaly 32 HP:0002119
8 epileptic encephalopathy 32 HP:0200134
9 hypsarrhythmia 32 HP:0002521
10 cerebellar atrophy 32 HP:0001272
11 cerebral atrophy 32 HP:0002059
12 progressive microcephaly 32 HP:0000253

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

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:

41
Brain

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. 8 71
29534297 2018
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 65

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYFIP2 NM_001291721.2(CYFIP2): c.208-1839C> T single nucleotide variant Pathogenic/Likely pathogenic rs1131692231 5:156721843-156721843 5:157294834-157294834
2 CYFIP2 NM_001291721.2(CYFIP2): c.208-1838G> T single nucleotide variant Likely pathogenic rs1554108163 5:156721844-156721844 5:157294835-157294835
3 CYFIP2 NM_001291721.2(CYFIP2): c.208-1838G> C single nucleotide variant Likely pathogenic rs1554108163 5:156721844-156721844 5:157294835-157294835

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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