EIEE70
MCID: EPL234
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 70 (EIEE70)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 70

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 70:

Name: Epileptic Encephalopathy, Early Infantile, 70 56 73 29 6
Eiee70 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in first months of life
three unrelated patients have been reported (last curated january 2019)


HPO:

31
epileptic encephalopathy, early infantile, 70:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 70

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 70: 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. EIEE70 is an autosomal dominant form with onset in first months of life and variable severity.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 70, is also known as eiee70. An important gene associated with Epileptic Encephalopathy, Early Infantile, 70 is PHACTR1 (Phosphatase And Actin Regulator 1). Affiliated tissues include brain, and related phenotypes are scoliosis and abnormal facial shape

More information from OMIM: 618298 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 70

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 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 70

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 70:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 abnormal facial shape 31 very rare (1%) HP:0001999
3 flexion contracture 31 very rare (1%) HP:0001371
4 spastic tetraparesis 31 very rare (1%) HP:0001285
5 brain imaging abnormality 31 very rare (1%) HP:0410263
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 microcephaly 31 HP:0000252
9 narrow mouth 31 HP:0000160
10 cryptorchidism 31 HP:0000028
11 low-set ears 31 HP:0000369
12 cerebral cortical atrophy 31 HP:0002120
13 ventriculomegaly 31 HP:0002119
14 poor head control 31 HP:0002421
15 generalized hypotonia 31 HP:0001290
16 hypsarrhythmia 31 HP:0002521
17 epileptic encephalopathy 31 HP:0200134
18 delayed myelination 31 HP:0012448
19 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
poor head control
epileptic encephalopathy
delayed myelination
enlarged ventricles
more
Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Spine:
scoliosis (1 patient)

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Head And Neck Eyes:
hypertelorism
short eyebrows

Head And Neck Ears:
low-set ears

Head And Neck Mouth:
small mouth

Head And Neck Head:
small head circumference

Skeletal:
joint contractures (1 patient)

Growth Height:
low normal height

Clinical features from OMIM:

618298

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 70

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 70

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 70

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 70:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 70 29 PHACTR1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 70

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 70:

40
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 70

Articles related to Epileptic Encephalopathy, Early Infantile, 70:

# Title Authors PMID Year
1
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. 56 6
30256902 2018
2
Diagnostic exome sequencing in persons with severe intellectual disability. 56 6
23033978 2012
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 70

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PHACTR1 NM_001318809.1(TBC1D7-LOC100130357):c.40-15638G>ASNV Pathogenic 617490 rs748743403 6:13283705-13283705 6:13283473-13283473
2 PHACTR1 NM_030948.3:c.1499T>CSNV Pathogenic 617491 rs1562114406
3 PHACTR1 NM_001318809.1(TBC1D7-LOC100130357):c.40-5069T>ASNV Pathogenic 617492 rs1562103192 6:13273136-13273136 6:13272904-13272904

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

73
# Symbol AA change Variation ID SNP ID
1 PHACTR1 p.Arg521Cys VAR_069379 rs748743403
2 PHACTR1 p.Asn479Ile VAR_081810
3 PHACTR1 p.Leu500Pro VAR_081811

Expression for Epileptic Encephalopathy, Early Infantile, 70

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 70.

Pathways for Epileptic Encephalopathy, Early Infantile, 70

GO Terms for Epileptic Encephalopathy, Early Infantile, 70

Sources for Epileptic Encephalopathy, Early Infantile, 70

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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