DEE47
MCID: DVL072
MIFTS: 25

Developmental and Epileptic Encephalopathy 47 (DEE47)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 47

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 47:

Name: Developmental and Epileptic Encephalopathy 47 57 12
Epileptic Encephalopathy, Early Infantile, 47 57 72 29 6
Eiee47 57 72
Dee47 57 12
Epileptic Encephalopathy, Early Infantile, 47; Eiee47 57
Early Infantile Epileptic Encephalopathy 47 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
developmental and epileptic encephalopathy 47:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0080425
OMIM® 57 617166
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 47

OMIM® : 57 Developmental and epileptic encephalopathy-47 (DEE47) 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 DEE, see 308350. (617166) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 47, is also known as epileptic encephalopathy, early infantile, 47. An important gene associated with Developmental and Epileptic Encephalopathy 47 is FGF12 (Fibroblast Growth Factor 12). Affiliated tissues include breast, and related phenotypes are optic disc pallor and postnatal microcephaly

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has material basis in heterozygous mutation in the FGF12 gene on chromosome 3q28.

UniProtKB/Swiss-Prot : 72 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 Developmental and Epileptic Encephalopathy 47

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 47

Human phenotypes related to Developmental and Epileptic Encephalopathy 47:

31 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 31 occasional (7.5%) HP:0000543
2 postnatal microcephaly 31 occasional (7.5%) HP:0005484
3 cerebral visual impairment 31 occasional (7.5%) HP:0100704
4 developmental regression 31 HP:0002376
5 absent speech 31 HP:0001344
6 feeding difficulties 31 HP:0011968
7 cerebellar atrophy 31 HP:0001272
8 status epilepticus 31 HP:0002133
9 muscular hypotonia of the trunk 31 HP:0008936
10 inability to walk 31 HP:0002540
11 poor speech 31 HP:0002465
12 hypsarrhythmia 31 HP:0002521
13 limb ataxia 31 HP:0002070
14 multifocal epileptiform discharges 31 HP:0010841
15 epileptic encephalopathy 31 HP:0200134
16 chronic constipation 31 HP:0012450

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
developmental regression
cerebellar atrophy
status epilepticus
inability to walk
poor speech
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 47

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 47

Genetic Tests for Developmental and Epileptic Encephalopathy 47

Genetic tests related to Developmental and Epileptic Encephalopathy 47:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 47 29 FGF12

Anatomical Context for Developmental and Epileptic Encephalopathy 47

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 47:

40
Breast

Publications for Developmental and Epileptic Encephalopathy 47

Articles related to Developmental and Epileptic Encephalopathy 47:

(showing 11, show less)
# Title Authors PMID Year
1
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 6 57
27872899 2016
2
FHF1 (FGF12) epileptic encephalopathy. 57 6
27830185 2016
3
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. 6 57
27164707 2016
4
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. 6
29699863 2018
5
Systematic reanalysis of genomic data improves quality of variant interpretation. 6
29652076 2018
6
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 6
28991257 2017
7
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
8
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. 6
28506426 2017
9
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
10
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
11
Male secretory breast cancer: case in a 6-year-old boy with a peculiar gene duplication and review of the literature. 61
29616377 2018

Variations for Developmental and Epileptic Encephalopathy 47

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 47:

6 (showing 3, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF12 NM_004113.6(FGF12):c.155G>A (p.Arg52His) SNV Pathogenic 266034 rs886039903 GRCh37: 3:192053223-192053223
GRCh38: 3:192335434-192335434
2 FGF12 NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) SNV Likely pathogenic 522854 rs1553798675 GRCh37: 3:192053230-192053230
GRCh38: 3:192335441-192335441
3 FGF12 NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) SNV Uncertain significance 1033969 GRCh37: 3:192078253-192078253
GRCh38: 3:192360464-192360464

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 47:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 FGF12 p.Arg114His VAR_076507 rs886039903

Expression for Developmental and Epileptic Encephalopathy 47

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 47.

Pathways for Developmental and Epileptic Encephalopathy 47

GO Terms for Developmental and Epileptic Encephalopathy 47

Sources for Developmental and Epileptic Encephalopathy 47

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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