DEE46
MCID: DVL071
MIFTS: 24

Developmental and Epileptic Encephalopathy 46 (DEE46)

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 46

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 46:

Name: Developmental and Epileptic Encephalopathy 46 57 12
Epileptic Encephalopathy, Early Infantile, 46 57 73 29 6
Eiee46 57 73
Dee46 57 12
Epileptic Encephalopathy, Early Infantile, 46; Eiee46 57
Early Infantile Epileptic Encephalopathy 46 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 46

OMIM® : 57 Developmental and epileptic encephalopathy-46 (DEE46) is a neurologic disorder characterized by the onset of intractable seizures in the first months or years of life. Affected individuals show global developmental delay with failure to thrive, hypotonia, and hyperreflexia with variably impaired intellectual development. More severely affected individuals have almost no developmental progress and are unable to sit or speak, whereas others may achieve some milestones (summary by Tsuchida et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617162) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 46, is also known as epileptic encephalopathy, early infantile, 46. An important gene associated with Developmental and Epileptic Encephalopathy 46 is GRIN2D (Glutamate Ionotropic Receptor NMDA Type Subunit 2D). Related phenotypes are cerebral atrophy and failure to thrive

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has material basis in heterozygous mutation in the GRIN2D gene on chromosome 19q13.

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.

Related Diseases for Developmental and Epileptic Encephalopathy 46

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 57 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 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 46

Human phenotypes related to Developmental and Epileptic Encephalopathy 46:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 31 very rare (1%) HP:0002059
2 failure to thrive 31 HP:0001508
3 dysphagia 31 HP:0002015
4 global developmental delay 31 HP:0001263
5 pes planus 31 HP:0001763
6 microcephaly 31 HP:0000252
7 hypertonia 31 HP:0001276
8 absent speech 31 HP:0001344
9 feeding difficulties 31 HP:0011968
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®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
global developmental delay
hypsarrhythmia
epileptic encephalopathy
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 46

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 46

Genetic Tests for Developmental and Epileptic Encephalopathy 46

Genetic tests related to Developmental and Epileptic Encephalopathy 46:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 46 29 GRIN2D

Anatomical Context for Developmental and Epileptic Encephalopathy 46

Publications for Developmental and Epileptic Encephalopathy 46

Articles related to Developmental and Epileptic Encephalopathy 46:

# Title Authors PMID Year
1
GRIN2D variants in three cases of developmental and epileptic encephalopathy. 6 57
30280376 2018
2
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. 6 57
27616483 2016

Variations for Developmental and Epileptic Encephalopathy 46

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 46:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIN2D NM_000836.2(GRIN2D):c.1999G>A (p.Val667Ile) SNV Pathogenic 267211 rs886040861 19:48922979-48922979 19:48419722-48419722
2 GRIN2D NM_000836.2(GRIN2D):c.2043G>C (p.Met681Ile) SNV Pathogenic 599388 rs1569065861 19:48923023-48923023 19:48419766-48419766
3 GRIN2D NM_000836.2(GRIN2D):c.2080A>C (p.Ser694Arg) SNV Pathogenic 599389 rs1569065866 19:48923060-48923060 19:48419803-48419803
4 GRIN2D NM_000836.2(GRIN2D):c.1345G>A (p.Asp449Asn) SNV Pathogenic 599390 rs1569064110 19:48917774-48917774 19:48414517-48414517
5 GRIN2D NM_000836.2:c.1724C>T SNV Likely pathogenic 974877 19:48919401-48919401 19:48416144-48416144
6 GRIN2D NM_000836.2(GRIN2D):c.2888G>A (p.Arg963His) SNV Uncertain significance 689624 rs964725459 19:48946071-48946071 19:48442814-48442814
7 GRIN2D NM_000836.2(GRIN2D):c.1605G>T (p.Met535Ile) SNV Uncertain significance 803572 rs1390364278 19:48919282-48919282 19:48416025-48416025
8 GRIN2D NM_000836.2(GRIN2D):c.2008C>T (p.Leu670Phe) SNV Uncertain significance 813811 rs1600982189 19:48922988-48922988 19:48419731-48419731
9 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 Developmental and Epileptic Encephalopathy 46:

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

Expression for Developmental and Epileptic Encephalopathy 46

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 46.

Pathways for Developmental and Epileptic Encephalopathy 46

GO Terms for Developmental and Epileptic Encephalopathy 46

Sources for Developmental and Epileptic Encephalopathy 46

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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