EIEE46
MCID: EPL176
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 46 (EIEE46)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 46

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 46:

Name: Epileptic Encephalopathy, Early Infantile, 46 58 76 30 6
Eiee46 58 76
Early Infantile Epileptic Encephalopathy 46 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
onset in infancy or early childhood


HPO:

33
epileptic encephalopathy, early infantile, 46:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 46

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 46: 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, 46, is also known as eiee46. An important gene associated with Epileptic Encephalopathy, Early Infantile, 46 is GRIN2D (Glutamate Ionotropic Receptor NMDA Type Subunit 2D). Affiliated tissues include liver and eye, and related phenotypes are cerebral atrophy and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GRIN2D gene on chromosome 19q13.

Description from OMIM: 617162

Related Diseases for Epileptic Encephalopathy, Early Infantile, 46

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, 46

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 46:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 33 very rare (1%) HP:0002059
2 seizures 33 HP:0001250
3 failure to thrive 33 HP:0001508
4 dysphagia 33 HP:0002015
5 global developmental delay 33 HP:0001263
6 pes planus 33 HP:0001763
7 microcephaly 33 HP:0000252
8 hypertonia 33 HP:0001276
9 feeding difficulties 33 HP:0011968
10 absent speech 33 HP:0001344
11 epileptic encephalopathy 33 HP:0200134
12 hypsarrhythmia 33 HP:0002521
13 muscular hypotonia of the trunk 33 HP:0008936
14 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Neurologic Central Nervous System:
global developmental delay
epileptic encephalopathy
hypsarrhythmia
seizures, refractory
abnormal eeg
more
Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
dysmorphic features (in some patients)
orofacial hypotonia (in some patients)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Skeletal Feet:
pes planus

Muscle Soft Tissue:
axial hypotonia
appendicular hypertonia

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

Clinical features from OMIM:

617162

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 46

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 46

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 46

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 46:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 46 30 GRIN2D

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 46

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 46:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 46

Articles related to Epileptic Encephalopathy, Early Infantile, 46:

# Title Authors Year
1
GRIN2D variants in three cases of developmental and epileptic encephalopathy. ( 30280376 )
2018
2
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. ( 27616483 )
2016

Variations for Epileptic Encephalopathy, Early Infantile, 46

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 46:

76
# Symbol AA change Variation ID SNP ID
1 GRIN2D p.Val667Ile VAR_077103 rs886040861

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 46:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2D NM_000836.2(GRIN2D): c.1999G> A (p.Val667Ile) single nucleotide variant Pathogenic rs886040861 GRCh37 Chromosome 19, 48922979: 48922979
2 GRIN2D NM_000836.2(GRIN2D): c.1999G> A (p.Val667Ile) single nucleotide variant Pathogenic rs886040861 GRCh38 Chromosome 19, 48419722: 48419722
3 GRIN2D NM_000836.2(GRIN2D): c.2043G> C (p.Met681Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 48923023: 48923023
4 GRIN2D NM_000836.2(GRIN2D): c.2043G> C (p.Met681Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 48419766: 48419766
5 GRIN2D NM_000836.2(GRIN2D): c.2080A> C (p.Ser694Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 48923060: 48923060
6 GRIN2D NM_000836.2(GRIN2D): c.2080A> C (p.Ser694Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 48419803: 48419803
7 GRIN2D NM_000836.2(GRIN2D): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 48414517: 48414517
8 GRIN2D NM_000836.2(GRIN2D): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 48917774: 48917774

Expression for Epileptic Encephalopathy, Early Infantile, 46

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 46.

Pathways for Epileptic Encephalopathy, Early Infantile, 46

GO Terms for Epileptic Encephalopathy, Early Infantile, 46

Sources for Epileptic Encephalopathy, Early Infantile, 46

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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