MCID: EPL173
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 47

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, 47

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

Name: Epileptic Encephalopathy, Early Infantile, 47 57 75 29 6
Eiee47 57 75

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 47:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 47

OMIM : 57 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, is also known as eiee47. An important gene associated with Epileptic Encephalopathy, Early Infantile, 47 is FGF12 (Fibroblast Growth Factor 12). Related phenotypes are optic disc pallor and cerebellar atrophy

UniProtKB/Swiss-Prot : 75 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 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, 47

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental regression
limb ataxia
inability to walk
cerebellar atrophy
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 32 occasional (7.5%) HP:0000543
2 cerebellar atrophy 32 HP:0001272
3 absent speech 32 HP:0001344
4 limb ataxia 32 HP:0002070
5 status epilepticus 32 HP:0002133
6 developmental regression 32 HP:0002376
7 poor speech 32 HP:0002465
8 hypsarrhythmia 32 HP:0002521
9 inability to walk 32 HP:0002540
10 postnatal microcephaly 32 occasional (7.5%) HP:0005484
11 muscular hypotonia of the trunk 32 HP:0008936
12 multifocal epileptiform discharges 32 HP:0010841
13 feeding difficulties 32 HP:0011968
14 chronic constipation 32 HP:0012450
15 cortical visual impairment 32 occasional (7.5%) HP:0100704
16 epileptic encephalopathy 32 HP:0200134

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 29 FGF12

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 47

Publications for Epileptic Encephalopathy, Early Infantile, 47

Variations for Epileptic Encephalopathy, Early Infantile, 47

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

75
# 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 GRCh37 Chromosome 3, 192053230: 192053230
4 FGF12 NM_021032.4(FGF12): c.334G> A (p.Gly112Ser) single nucleotide variant Likely pathogenic 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

GO Terms for Epileptic Encephalopathy, Early Infantile, 47

Sources for Epileptic Encephalopathy, Early Infantile, 47

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
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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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