MCID: EPL139
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 28

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 28

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 28:

Name: Epileptic Encephalopathy, Early Infantile, 28 57 75 29 6 73
Eiee28 57 75
Encephalopathy, Epileptic, Early Infantile, Type 28 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first months of life
premature death may occur


HPO:

32
epileptic encephalopathy, early infantile, 28:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 28

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 28: 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 28, is also known as eiee28, and has symptoms including muscle rigidity and muscle spasticity. An important gene associated with Epileptic Encephalopathy, Early Infantile, 28 is WWOX (WW Domain Containing Oxidoreductase). Related phenotypes are progressive microcephaly and abnormal electroretinogram

Description from OMIM: 616211

Related Diseases for Epileptic Encephalopathy, Early Infantile, 28

Diseases in the 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 28

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
rigidity
hypokinesia
epileptic encephalopathy
more
Muscle Soft Tissue:
axial hypotonia

Head And Neck Eyes:
optic atrophy (in some patients)
retinal degeneration (in some patients)
poor or lack of visual contact (in some patients)
abnormal electroretinogram (in some patients)

Head And Neck Head:
microcephaly, progressive (in some patients)


Clinical features from OMIM:

616211

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 28:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 abnormal electroretinogram 32 occasional (7.5%) HP:0000512
3 retinal degeneration 32 occasional (7.5%) HP:0000546
4 optic atrophy 32 occasional (7.5%) HP:0000648
5 seizures 32 HP:0001250
6 spasticity 32 HP:0001257
7 global developmental delay 32 HP:0001263
8 hyperreflexia 32 HP:0001347
9 cerebral atrophy 32 occasional (7.5%) HP:0002059
10 rigidity 32 HP:0002063
11 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
12 hypokinesia 32 HP:0002375
13 muscular hypotonia of the trunk 32 HP:0008936
14 delayed myelination 32 occasional (7.5%) HP:0012448
15 epileptic encephalopathy 32 HP:0200134

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 28:


muscle rigidity, muscle spasticity

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 28

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 28

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 28

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 28:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 28 29 WWOX

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 28

Publications for Epileptic Encephalopathy, Early Infantile, 28

Variations for Epileptic Encephalopathy, Early Infantile, 28

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 28:

75
# Symbol AA change Variation ID SNP ID
1 WWOX p.Pro47Arg VAR_072351 rs730880292

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 28:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 WWOX NM_016373.3(WWOX): c.160C> T (p.Arg54Ter) single nucleotide variant Pathogenic rs587777248 GRCh38 Chromosome 16, 78108475: 78108475
2 WWOX NM_016373.3(WWOX): c.160C> T (p.Arg54Ter) single nucleotide variant Pathogenic rs587777248 GRCh37 Chromosome 16, 78142372: 78142372
3 WWOX NM_016373.3(WWOX): c.-366-?_516+?del deletion Pathogenic GRCh38 Chromosome 16, 78099413: 78164289
4 WWOX NM_016373.3(WWOX): c.-366-?_516+?del deletion Pathogenic GRCh37 Chromosome 16, 78133327: 78198186
5 WWOX NM_016373.3(WWOX): c.517-?_605+?del deletion Pathogenic GRCh38 Chromosome 16, 78342602: 78424602
6 WWOX NM_016373.3(WWOX): c.517-?_605+?del deletion Pathogenic GRCh37 Chromosome 16, 78420757: 78420845
7 WWOX NM_016373.2(WWOX): c.517-?_605+?del deletion Pathogenic GRCh37 Chromosome 16, 78260521: 78417344
8 WWOX NM_016373.2(WWOX): c.517-?_605+?del deletion Pathogenic GRCh38 Chromosome 16, 78226624: 78383447
9 WWOX NM_016373.3(WWOX): c.1005G> A (p.Trp335Ter) single nucleotide variant Pathogenic rs730880290 GRCh37 Chromosome 16, 78466598: 78466598
10 WWOX NM_016373.3(WWOX): c.1005G> A (p.Trp335Ter) single nucleotide variant Pathogenic rs730880290 GRCh38 Chromosome 16, 78432701: 78432701
11 WWOX NM_016373.3(WWOX): c.46_49delGACG (p.Asp16Serfs) deletion Pathogenic rs730880291 GRCh37 Chromosome 16, 78133721: 78133724
12 WWOX NM_016373.3(WWOX): c.46_49delGACG (p.Asp16Serfs) deletion Pathogenic rs730880291 GRCh38 Chromosome 16, 78099824: 78099827
13 WWOX NM_016373.3(WWOX): c.140C> G (p.Pro47Arg) single nucleotide variant Pathogenic rs730880292 GRCh37 Chromosome 16, 78142352: 78142352
14 WWOX NM_016373.3(WWOX): c.140C> G (p.Pro47Arg) single nucleotide variant Pathogenic rs730880292 GRCh38 Chromosome 16, 78108455: 78108455
15 WWOX NM_016373.3(WWOX): c.606-1G> A single nucleotide variant Likely pathogenic rs730882215 GRCh38 Chromosome 16, 78424869: 78424869
16 WWOX NM_016373.3(WWOX): c.606-1G> A single nucleotide variant Likely pathogenic rs730882215 GRCh37 Chromosome 16, 78458766: 78458766
17 WWOX NM_016373.3(WWOX): c.749C> G (p.Ser250Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368928190 GRCh37 Chromosome 16, 78458910: 78458910
18 WWOX NM_016373.3(WWOX): c.749C> G (p.Ser250Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368928190 GRCh38 Chromosome 16, 78425013: 78425013
19 WWOX NM_016373.3(WWOX): c.791+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 78425056: 78425056
20 WWOX NM_016373.3(WWOX): c.791+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 78458953: 78458953

Expression for Epileptic Encephalopathy, Early Infantile, 28

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 28.

Pathways for Epileptic Encephalopathy, Early Infantile, 28

GO Terms for Epileptic Encephalopathy, Early Infantile, 28

Sources for Epileptic Encephalopathy, Early Infantile, 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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