EIEE47
MCID: EPL173
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 47 (EIEE47)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 47

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 47:

Name: Epileptic Encephalopathy, Early Infantile, 47 58 76 30 6
Early Infantile Epileptic Encephalopathy 47 12 15
Eiee47 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in first days or weeks of life
progressive and degenerative disorder
at least 1 patient with normal development has been reported
phenytoin may be a beneficial treatment


HPO:

33
epileptic encephalopathy, early infantile, 47:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 47

OMIM : 58 Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (617166)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 47, also known as early infantile epileptic encephalopathy 47, is related to deafness, autosomal dominant 44. An important gene associated with Epileptic Encephalopathy, Early Infantile, 47 is FGF12 (Fibroblast Growth Factor 12), and among its related pathways/superpathways is Nanog in Mammalian ESC Pluripotency. Affiliated tissues include liver and eye, and related phenotypes are optic disc pallor and postnatal microcephaly

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the FGF12 gene on chromosome 3q28.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 47: 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.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 47

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 47 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 44 9.7 FGF12 SNCA

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 47

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 47:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 33 occasional (7.5%) HP:0000543
2 postnatal microcephaly 33 occasional (7.5%) HP:0005484
3 cerebral visual impairment 33 occasional (7.5%) HP:0100704
4 developmental regression 33 HP:0002376
5 feeding difficulties 33 HP:0011968
6 absent speech 33 HP:0001344
7 limb ataxia 33 HP:0002070
8 inability to walk 33 HP:0002540
9 epileptic encephalopathy 33 HP:0200134
10 status epilepticus 33 HP:0002133
11 hypsarrhythmia 33 HP:0002521
12 cerebellar atrophy 33 HP:0001272
13 muscular hypotonia of the trunk 33 HP:0008936
14 poor speech 33 HP:0002465
15 chronic constipation 33 HP:0012450
16 multifocal epileptiform discharges 33 HP:0010841

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
developmental regression
limb ataxia
inability to walk
epileptic encephalopathy
status epilepticus
more
Muscle Soft Tissue:
axial hypotonia

Head And Neck Eyes:
cortical visual impairment (in some patients)
pale optic discs (in some patients)

Abdomen Gastrointestinal:
chronic constipation
poor feeding

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

Clinical features from OMIM:

617166

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 47

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 47

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 47

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 47:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 47 30 FGF12

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 47

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 47:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 47

Articles related to Epileptic Encephalopathy, Early Infantile, 47:

# Title Authors Year
1
FHF1 (FGF12) epileptic encephalopathy. ( 27830185 )
2016
2
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. ( 27164707 )
2016
3
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. ( 27872899 )
2016

Variations for Epileptic Encephalopathy, Early Infantile, 47

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 47:

76
# Symbol AA change Variation ID SNP ID
1 FGF12 p.Arg114His VAR_076507 rs886039903

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 47:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF12 NM_021032.4(FGF12): c.341G> A (p.Arg114His) single nucleotide variant Pathogenic rs886039903 GRCh37 Chromosome 3, 192053223: 192053223
2 FGF12 NM_021032.4(FGF12): c.341G> A (p.Arg114His) single nucleotide variant Pathogenic rs886039903 GRCh38 Chromosome 3, 192335434: 192335434
3 FGF12 NM_021032.4(FGF12): c.334G> A (p.Gly112Ser) single nucleotide variant Likely pathogenic rs1553798675 GRCh37 Chromosome 3, 192053230: 192053230
4 FGF12 NM_021032.4(FGF12): c.334G> A (p.Gly112Ser) single nucleotide variant Likely pathogenic rs1553798675 GRCh38 Chromosome 3, 192335441: 192335441

Expression for Epileptic Encephalopathy, Early Infantile, 47

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 47.

Pathways for Epileptic Encephalopathy, Early Infantile, 47

Pathways related to Epileptic Encephalopathy, Early Infantile, 47 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 FGF12 SNCA

GO Terms for Epileptic Encephalopathy, Early Infantile, 47

Biological processes related to Epileptic Encephalopathy, Early Infantile, 47 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.96 FGF12 SNCA
2 adult locomotory behavior GO:0008344 8.62 FGF12 SNCA

Sources for Epileptic Encephalopathy, Early Infantile, 47

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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