EIEE28
MCID: EPL139
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 28 (EIEE28)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 28

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

Name: Epileptic Encephalopathy, Early Infantile, 28 58 76 30 6 74
Eiee28 58 76
Encephalopathy, Epileptic, Early Infantile, Type 28 41
Early Infantile Epileptic Encephalopathy 28 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 76 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). Affiliated tissues include liver and eye, and related phenotypes are optic atrophy and abnormal electroretinogram

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.

Description from OMIM: 616211

Related Diseases for Epileptic Encephalopathy, Early Infantile, 28

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 28

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 occasional (7.5%) HP:0000648
2 abnormal electroretinogram 33 occasional (7.5%) HP:0000512
3 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
4 cerebral atrophy 33 occasional (7.5%) HP:0002059
5 retinal degeneration 33 occasional (7.5%) HP:0000546
6 delayed myelination 33 occasional (7.5%) HP:0012448
7 seizures 33 HP:0001250
8 spasticity 33 HP:0001257
9 hyperreflexia 33 HP:0001347
10 global developmental delay 33 HP:0001263
11 rigidity 33 HP:0002063
12 epileptic encephalopathy 33 HP:0200134
13 hypokinesia 33 HP:0002375
14 muscular hypotonia of the trunk 33 HP:0008936
15 progressive microcephaly 33 HP:0000253

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
hyperreflexia
rigidity
epileptic encephalopathy
hypokinesia
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

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 30 WWOX

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 28

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 28:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 28

Articles related to Epileptic Encephalopathy, Early Infantile, 28:

# Title Authors Year
1
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. ( 25411445 )
2015
2
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. ( 24456803 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 28

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

76
# 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 35)
# 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.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh38 Chromosome 16, 78425054: 78425054
18 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh37 Chromosome 16, 78458951: 78458951
19 WWOX NM_016373.3(WWOX): c.562C> A (p.Arg188Ser) single nucleotide variant Uncertain significance rs199511589 GRCh37 Chromosome 16, 78420802: 78420802
20 WWOX NM_016373.3(WWOX): c.562C> A (p.Arg188Ser) single nucleotide variant Uncertain significance rs199511589 GRCh38 Chromosome 16, 78386905: 78386905
21 WWOX NM_016373.3(WWOX): c.990C> G (p.Asn330Lys) single nucleotide variant Uncertain significance rs117209694 GRCh37 Chromosome 16, 78466583: 78466583
22 WWOX NM_016373.3(WWOX): c.990C> G (p.Asn330Lys) single nucleotide variant Uncertain significance rs117209694 GRCh38 Chromosome 16, 78432686: 78432686
23 WWOX NM_016373.3(WWOX): c.791+1G> A single nucleotide variant Likely pathogenic rs1164465811 GRCh38 Chromosome 16, 78425056: 78425056
24 WWOX NM_016373.3(WWOX): c.791+1G> A single nucleotide variant Likely pathogenic rs1164465811 GRCh37 Chromosome 16, 78458953: 78458953
25 WWOX NM_016373.3(WWOX): c.341T> C (p.Met114Thr) single nucleotide variant Uncertain significance rs761906386 GRCh37 Chromosome 16, 78148983: 78148983
26 WWOX NM_016373.3(WWOX): c.341T> C (p.Met114Thr) single nucleotide variant Uncertain significance rs761906386 GRCh38 Chromosome 16, 78115086: 78115086
27 WWOX NM_016373.3(WWOX): c.935C> A (p.Ser312Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 78432631: 78432631
28 WWOX NM_016373.3(WWOX): c.935C> A (p.Ser312Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 78466528: 78466528
29 WWOX NM_016373.3(WWOX): c.1039C> A (p.Pro347Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 78432735: 78432735
30 WWOX NM_016373.3(WWOX): c.1039C> A (p.Pro347Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 78466632: 78466632
31 WWOX GRCh37/hg19 16q23.1(chr16: 78143268-78154701) copy number loss Pathogenic GRCh37 Chromosome 16, 78143268: 78154701
32 WWOX GRCh37/hg19 16q23.1(chr16: 78409180-78431277) copy number loss Pathogenic GRCh37 Chromosome 16, 78409180: 78431277
33 WWOX GRCh37/hg19 16q23.1(chr16: 78458774-78463512) copy number loss Pathogenic GRCh37 Chromosome 16, 78458774: 78463512
34 WWOX NM_016373.4(WWOX): c.517-108243C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 78312514: 78312514
35 WWOX NM_016373.4(WWOX): c.517-108243C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 78278617: 78278617

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

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