DEE27
MCID: DVL053
MIFTS: 31

Developmental and Epileptic Encephalopathy 27 (DEE27)

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 27

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 27:

Name: Developmental and Epileptic Encephalopathy 27 57 12
Epileptic Encephalopathy, Early Infantile, 27 57 73 29 6
Eiee27 57 73
Dee27 57 12
Epileptic Encephalopathy, Early Infantile, 27; Eiee27 57
Encephalopathy, Epileptic, Early Infantile, Type 27 39
Early Infantile Epileptic Encephalopathy 27 12

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
highly variable severity
onset in first weeks or months of life


HPO:

31
developmental and epileptic encephalopathy 27:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 27

OMIM® : 57 Developmental and epileptic encephalopathy-27 (DEE27) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616139) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 27, also known as epileptic encephalopathy, early infantile, 27, is related to grin2b-related neurodevelopmental disorder and mental retardation, autosomal dominant 6, with or without seizures, and has symptoms including seizures An important gene associated with Developmental and Epileptic Encephalopathy 27 is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B). Related phenotypes are microcephaly and intellectual disability

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has material basis in heterozygous mutation in the GRIN2B gene on chromosome 12p12.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 27: 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 27

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

Diseases related to Developmental and Epileptic Encephalopathy 27 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 grin2b-related neurodevelopmental disorder 11.4
2 mental retardation, autosomal dominant 6, with or without seizures 9.6 GRIN2B DDX47
3 west syndrome 9.5 GRIN2B DDX47

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 27

Human phenotypes related to Developmental and Epileptic Encephalopathy 27:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 chorea 31 HP:0002072
5 global developmental delay 31 HP:0001263
6 dyskinesia 31 HP:0100660
7 absent speech 31 HP:0001344
8 dystonia 31 HP:0001332
9 generalized hypotonia 31 HP:0001290
10 hypsarrhythmia 31 HP:0002521
11 epileptic encephalopathy 31 HP:0200134
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
dystonia
epileptic encephalopathy
more
Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia
axial muscle hyperextension, episodic

Head And Neck Eyes:
poor visual contact

Clinical features from OMIM®:

616139 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 27:


seizures

GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 27 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.56 DDX47 GRIN2B
2 Decreased shRNA abundance GR00251-A-2 9.56 DDX47 GRIN2B
3 Reduced mammosphere formation GR00396-S 8.62 DDX47 GRIN2B

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 27

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 27

Genetic Tests for Developmental and Epileptic Encephalopathy 27

Genetic tests related to Developmental and Epileptic Encephalopathy 27:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 27 29 GRIN2B

Anatomical Context for Developmental and Epileptic Encephalopathy 27

Publications for Developmental and Epileptic Encephalopathy 27

Articles related to Developmental and Epileptic Encephalopathy 27:

# Title Authors PMID Year
1
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 57 6
24272827 2014
2
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 57
28377535 2017

Variations for Developmental and Epileptic Encephalopathy 27

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 27:

6 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIN2B NM_000834.4(GRIN2B):c.1853T>G (p.Val618Gly) SNV Pathogenic 162085 rs672601376 12:13761694-13761694 12:13608760-13608760
2 GRIN2B NM_000834.4(GRIN2B):c.1844A>T (p.Asn615Ile) SNV Pathogenic 162086 rs672601377 12:13761703-13761703 12:13608769-13608769
3 GRIN2B NM_000834.4(GRIN2B):c.2053A>C (p.Thr685Pro) SNV Pathogenic 224086 rs869312669 12:13724856-13724856 12:13571922-13571922
4 GRIN2B NM_000834.4(GRIN2B):c.1966C>T (p.Gln656Ter) SNV Pathogenic 431127 rs1135401799 12:13761581-13761581 12:13608647-13608647
5 GRIN2B NM_000834.4(GRIN2B):c.1345G>T (p.Glu449Ter) SNV Pathogenic 544230 rs1555112186 12:13768582-13768582 12:13615648-13615648
6 GRIN2B NM_000834.4(GRIN2B):c.1821G>A (p.Trp607Ter) SNV Pathogenic 574682 rs1057518700 12:13761726-13761726 12:13608792-13608792
7 GRIN2B NM_000834.4(GRIN2B):c.2560del (p.Cys854fs) Deletion Pathogenic 619997 12:13719997-13719997 12:13567063-13567063
8 GRIN2B NM_000834.4(GRIN2B):c.3332G>A (p.Arg1111His) SNV Pathogenic 234696 rs876661167 12:13716840-13716840 12:13563906-13563906
9 DDX47 NC_000012.12:g.(?_12717002)_(13982130_?)del Deletion Pathogenic 831584 12:12869936-14135064
10 GRIN2B NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) SNV Pathogenic 917869 12:13720165-13720165 12:13567231-13567231
11 GRIN2B NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) SNV Pathogenic 208643 rs797044849 12:13720098-13720098 12:13567164-13567164
12 GRIN2B NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) SNV Pathogenic 916592 12:13720102-13720102 12:13567168-13567168
13 GRIN2B NM_000834.4(GRIN2B):c.2539C>T (p.Arg847Ter) SNV Pathogenic 245756 rs879253931 12:13720018-13720018 12:13567084-13567084
14 GRIN2B NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser) SNV Pathogenic 224818 12:13724844-13724844 12:13571910-13571910
15 GRIN2B NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) SNV Pathogenic 981287 12:13768146-13768146 12:13615212-13615212
16 GRIN2B NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val) SNV Likely pathogenic 988725 12:13906366-13906366 12:13753432-13753432
17 GRIN2B NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) SNV Likely pathogenic 205710 rs796052571 12:13761689-13761689 12:13608755-13608755
18 GRIN2B NM_000834.5(GRIN2B):c.2755C>T (p.Gln919Ter) SNV Likely pathogenic 956942 12:13717417-13717417 12:13564483-13564483
19 GRIN2B NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) SNV Likely pathogenic 827797 rs1168374610 12:13720002-13720002 12:13567068-13567068
20 GRIN2B NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) SNV Likely pathogenic 928560 12:13764764-13764764 12:13611830-13611830
21 GRIN2B NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) SNV Likely pathogenic 843669 12:13761700-13761700 12:13608766-13608766
22 GRIN2B NM_000834.4(GRIN2B):c.2429G>A (p.Ser810Asn) SNV Likely pathogenic 800894 rs1591609136 12:13720128-13720128 12:13567194-13567194
23 GRIN2B NM_000834.4(GRIN2B):c.3944C>T (p.Ala1315Val) SNV Likely pathogenic 655974 rs1591605514 12:13716228-13716228 12:13563294-13563294
24 GRIN2B NM_000834.4(GRIN2B):c.1280G>T (p.Gly427Val) SNV Likely pathogenic 663217 rs1591643530 12:13769437-13769437 12:13616503-13616503
25 GRIN2B NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) SNV Likely pathogenic 373930 rs876661151 12:13761545-13761545 12:13608611-13608611
26 GRIN2B NM_000834.4(GRIN2B):c.1598G>A (p.Gly533Asp) SNV Likely pathogenic 397525 rs1060499659 12:13768104-13768104 12:13615170-13615170
27 GRIN2B NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) SNV Conflicting interpretations of pathogenicity 435382 rs201670483 12:13716191-13716191 12:13563257-13563257
28 GRIN2B NM_000834.4(GRIN2B):c.3085_3087TCC[1] (p.Ser1030del) Microsatellite Uncertain significance 238193 rs878854145 12:13717082-13717084 12:13564148-13564150
29 GRIN2B NM_000834.4(GRIN2B):c.3470A>G (p.Glu1157Gly) SNV Uncertain significance 560713 rs1565453853 12:13716702-13716702 12:13563768-13563768
30 GRIN2B NM_000834.4(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) Deletion Uncertain significance 561026 rs1565457062 12:13722842-13722850 12:13569908-13569916
31 GRIN2B NM_000834.4(GRIN2B):c.2450A>G (p.Asn817Ser) SNV Uncertain significance 546556 rs1555103159 12:13720107-13720107 12:13567173-13567173
32 GRIN2B NM_000834.4(GRIN2B):c.2422G>A (p.Val808Ile) SNV Uncertain significance 562202 rs1565455923 12:13720135-13720135 12:13567201-13567201
33 GRIN2B NM_000834.4(GRIN2B):c.3202G>A (p.Val1068Ile) SNV Uncertain significance 565631 rs749434579 12:13716970-13716970 12:13564036-13564036
34 GRIN2B NM_000834.4(GRIN2B):c.2510T>C (p.Ile837Thr) SNV Uncertain significance 560646 rs1565455844 12:13720047-13720047 12:13567113-13567113
35 GRIN2B NM_000834.4(GRIN2B):c.1705G>A (p.Val569Ile) SNV Uncertain significance 567253 rs1293991066 12:13764734-13764734 12:13611800-13611800
36 GRIN2B NM_000834.4(GRIN2B):c.4196A>G (p.His1399Arg) SNV Uncertain significance 567750 rs1565452791 12:13715976-13715976 12:13563042-13563042
37 GRIN2B NM_000834.4(GRIN2B):c.2099C>G (p.Ala700Gly) SNV Uncertain significance 568730 rs1191539298 12:13724810-13724810 12:13571876-13571876
38 GRIN2B NM_000834.4(GRIN2B):c.4307G>C (p.Gly1436Ala) SNV Uncertain significance 569867 rs1565452616 12:13715865-13715865 12:13562931-13562931
39 GRIN2B NM_000834.4(GRIN2B):c.2854C>T (p.Pro952Ser) SNV Uncertain significance 572311 rs1565454641 12:13717318-13717318 12:13564384-13564384
40 GRIN2B NM_000834.4(GRIN2B):c.3946G>A (p.Ala1316Thr) SNV Uncertain significance 544231 rs199803550 12:13716226-13716226 12:13563292-13563292
41 GRIN2B NM_000834.4(GRIN2B):c.4322G>A (p.Arg1441His) SNV Uncertain significance 506431 rs200903876 12:13715850-13715850 12:13562916-13562916
42 GRIN2B NM_000834.4(GRIN2B):c.3505G>A (p.Gly1169Arg) SNV Uncertain significance 544232 rs777639067 12:13716667-13716667 12:13563733-13563733
43 GRIN2B NM_000834.4(GRIN2B):c.3886A>C (p.Asn1296His) SNV Uncertain significance 544233 rs1555101871 12:13716286-13716286 12:13563352-13563352
44 GRIN2B NM_000834.4(GRIN2B):c.2960A>G (p.His987Arg) SNV Uncertain significance 544234 rs765183831 12:13717212-13717212 12:13564278-13564278
45 GRIN2B NM_000834.4(GRIN2B):c.3493G>A (p.Asp1165Asn) SNV Uncertain significance 478000 rs769857006 12:13716679-13716679 12:13563745-13563745
46 GRIN2B NM_000834.4(GRIN2B):c.3118G>A (p.Gly1040Ser) SNV Uncertain significance 544228 rs202222002 12:13717054-13717054 12:13564120-13564120
47 GRIN2B NM_000834.4(GRIN2B):c.3683C>T (p.Thr1228Met) SNV Uncertain significance 544229 rs75670883 12:13716489-13716489 12:13563555-13563555
48 GRIN2B NM_000834.4(GRIN2B):c.3964G>C (p.Val1322Leu) SNV Uncertain significance 411109 rs200255226 12:13716208-13716208 12:13563274-13563274
49 GRIN2B NM_000834.4(GRIN2B):c.3409T>A (p.Phe1137Ile) SNV Uncertain significance 411108 rs1060503159 12:13716763-13716763 12:13563829-13563829
50 GRIN2B NM_000834.4(GRIN2B):c.23G>C (p.Cys8Ser) SNV Uncertain significance 411112 rs1060503160 12:14019120-14019120 12:13866186-13866186

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 27:

73
# Symbol AA change Variation ID SNP ID
1 GRIN2B p.Arg540His VAR_072663 rs672601378
2 GRIN2B p.Asn615Ile VAR_072664 rs672601377
3 GRIN2B p.Val618Gly VAR_072665 rs672601376

Expression for Developmental and Epileptic Encephalopathy 27

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 27.

Pathways for Developmental and Epileptic Encephalopathy 27

GO Terms for Developmental and Epileptic Encephalopathy 27

Sources for Developmental and Epileptic Encephalopathy 27

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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