EIEE46
MCID: EPL176
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 46 (EIEE46)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological 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 56 73 29 6
Eiee46 56 73
Early Infantile Epileptic Encephalopathy 46 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
epileptic encephalopathy, early infantile, 46:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset phenotypic variability


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 46

UniProtKB/Swiss-Prot : 73 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). Related phenotypes are cerebral atrophy and global developmental delay

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

More information from OMIM: 617162 PS308350

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 46

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 31 very rare (1%) HP:0002059
2 global developmental delay 31 HP:0001263
3 pes planus 31 HP:0001763
4 microcephaly 31 HP:0000252
5 hypertonia 31 HP:0001276
6 failure to thrive 31 HP:0001508
7 dysphagia 31 HP:0002015
8 feeding difficulties 31 HP:0011968
9 absent speech 31 HP:0001344
10 muscular hypotonia of the trunk 31 HP:0008936
11 cerebral visual impairment 31 HP:0100704
12 hypsarrhythmia 31 HP:0002521
13 epileptic encephalopathy 31 HP:0200134
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypsarrhythmia
epileptic encephalopathy
seizures, refractory
abnormal eeg
more
Growth Other:
failure to thrive

Head And Neck Head:
microcephaly (in some patients)

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

Skeletal Feet:
pes planus

Abdomen Gastrointestinal:
dysphagia
poor feeding

Muscle Soft Tissue:
axial hypotonia
appendicular hypertonia

Head And Neck Face:
dysmorphic features (in some patients)
orofacial hypotonia (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 29 GRIN2D

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 46

Publications for Epileptic Encephalopathy, Early Infantile, 46

Articles related to Epileptic Encephalopathy, Early Infantile, 46:

# Title Authors PMID Year
1
GRIN2D variants in three cases of developmental and epileptic encephalopathy. 56 6
30280376 2018
2
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. 6 56
27616483 2016
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 46

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIN2D NM_000836.2(GRIN2D):c.2043G>C (p.Met681Ile)SNV Pathogenic 599388 rs1569065861 19:48923023-48923023 19:48419766-48419766
2 GRIN2D NM_000836.2(GRIN2D):c.2080A>C (p.Ser694Arg)SNV Pathogenic 599389 rs1569065866 19:48923060-48923060 19:48419803-48419803
3 GRIN2D NM_000836.2(GRIN2D):c.1345G>A (p.Asp449Asn)SNV Pathogenic 599390 rs1569064110 19:48917774-48917774 19:48414517-48414517
4 GRIN2D NM_000836.2(GRIN2D):c.1999G>A (p.Val667Ile)SNV Pathogenic 267211 rs886040861 19:48922979-48922979 19:48419722-48419722
5 GRIN2D NM_000836.2(GRIN2D):c.2888G>A (p.Arg963His)SNV Uncertain significance 689624 19:48946071-48946071 19:48442814-48442814
6 GRIN2D NM_000836.2(GRIN2D):c.1605G>T (p.Met535Ile)SNV Uncertain significance 803572 19:48919282-48919282 19:48416025-48416025
7 GRIN2D NM_000836.2(GRIN2D):c.2008C>T (p.Leu670Phe)SNV Uncertain significance 813811 19:48922988-48922988 19:48419731-48419731
8 GRIN2D NM_000836.2(GRIN2D):c.2308G>A (p.Asp770Asn)SNV Uncertain significance 915391 19:48945081-48945081 19:48441824-48441824

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

73
# Symbol AA change Variation ID SNP ID
1 GRIN2D p.Val667Ile VAR_077103 rs886040861

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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