EIEE46
MCID: EPL176
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 46 (EIEE46)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75 29 6
Eiee46 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
two unrelated patients have been reported


HPO:

32
epileptic encephalopathy, early infantile, 46:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 46

UniProtKB/Swiss-Prot : 75 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 seizures and failure to thrive

Description from OMIM: 617162

Related Diseases for Epileptic Encephalopathy, Early Infantile, 46

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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, 46

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Neurologic Central Nervous System:
global developmental delay
hypsarrhythmia
epileptic encephalopathy
seizures, refractory
poor or absent speech
more
Muscle Soft Tissue:
axial hypotonia
appendicular hypertonia

Head And Neck Face:
dysmorphic features (patient a)
orofacial hypotonia (patient b)

Abdomen Gastrointestinal:
dysphagia
poor feeding

Skeletal Feet:
pes planus

Head And Neck Head:
microcephaly (patient b)

Head And Neck Eyes:
cortical visual impairment (patient a)


Clinical features from OMIM:

617162

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 failure to thrive 32 HP:0001508
3 dysphagia 32 HP:0002015
4 global developmental delay 32 HP:0001263
5 pes planus 32 HP:0001763
6 microcephaly 32 HP:0000252
7 hypertonia 32 HP:0001276
8 feeding difficulties 32 HP:0011968
9 absent speech 32 HP:0001344
10 hypsarrhythmia 32 HP:0002521
11 epileptic encephalopathy 32 HP:0200134
12 muscular hypotonia of the trunk 32 HP:0008936
13 cerebral visual impairment 32 HP:0100704

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

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

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 46

Variations for Epileptic Encephalopathy, Early Infantile, 46

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

75
# 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

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 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
42 MedGen
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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