EIEE27
MCID: EPL135
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 27 (EIEE27)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 27

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 27:

Name: Epileptic Encephalopathy, Early Infantile, 27 58 76 30 6 74
Eiee27 58 76
Encephalopathy, Epileptic, Early Infantile, Type 27 41
Early Infantile Epileptic Encephalopathy 27 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 27:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 27

OMIM : 58 Early infantile epileptic encephalopathy-27 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 EIEE, see EIEE1 (308350). (616139)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 27, also known as eiee27, is related to grin2b-related neurodevelopmental disorder, and has symptoms including seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 27 is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B). Affiliated tissues include brain, liver and eye, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 An early infantile 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 : 76 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 Epileptic Encephalopathy, Early Infantile, 27

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 27 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 grin2b-related neurodevelopmental disorder 11.5

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 27

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 27:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 chorea 33 HP:0002072
5 global developmental delay 33 HP:0001263
6 dyskinesia 33 HP:0100660
7 absent speech 33 HP:0001344
8 dystonia 33 HP:0001332
9 epileptic encephalopathy 33 HP:0200134
10 hypsarrhythmia 33 HP:0002521
11 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 27:


seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 27

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 27

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 27

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 27:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 27 30 GRIN2B

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 27

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 27:

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 27

Articles related to Epileptic Encephalopathy, Early Infantile, 27:

# Title Authors Year
1
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. ( 24272827 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 27

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 27:

76
# 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

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 27:

6 (show top 50) (show all 257)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2B NM_000834.4(GRIN2B): c.771C> T (p.Ile257=) single nucleotide variant Benign rs142203984 GRCh37 Chromosome 12, 13906490: 13906490
2 GRIN2B NM_000834.4(GRIN2B): c.771C> T (p.Ile257=) single nucleotide variant Benign rs142203984 GRCh38 Chromosome 12, 13753556: 13753556
3 GRIN2B NM_000834.4(GRIN2B): c.771C> T (p.Ile257=) single nucleotide variant Benign rs142203984 NCBI36 Chromosome 12, 13797757: 13797757
4 GRIN2B NM_000834.4(GRIN2B): c.4240G> T (p.Ala1414Ser) single nucleotide variant Likely benign rs140744818 GRCh37 Chromosome 12, 13715932: 13715932
5 GRIN2B NM_000834.4(GRIN2B): c.4240G> T (p.Ala1414Ser) single nucleotide variant Likely benign rs140744818 GRCh38 Chromosome 12, 13562998: 13562998
6 GRIN2B NM_000834.4(GRIN2B): c.4218C> T (p.Phe1406=) single nucleotide variant Benign/Likely benign rs1805246 GRCh37 Chromosome 12, 13715954: 13715954
7 GRIN2B NM_000834.4(GRIN2B): c.4218C> T (p.Phe1406=) single nucleotide variant Benign/Likely benign rs1805246 GRCh38 Chromosome 12, 13563020: 13563020
8 GRIN2B NM_000834.3(GRIN2B): c.3648C> T (p.Arg1216=) single nucleotide variant Likely benign rs201405157 GRCh37 Chromosome 12, 13716524: 13716524
9 GRIN2B NM_000834.3(GRIN2B): c.3648C> T (p.Arg1216=) single nucleotide variant Likely benign rs201405157 GRCh38 Chromosome 12, 13563590: 13563590
10 GRIN2B NM_000834.4(GRIN2B): c.2691C> T (p.Asn897=) single nucleotide variant Benign/Likely benign rs35125534 GRCh37 Chromosome 12, 13717481: 13717481
11 GRIN2B NM_000834.4(GRIN2B): c.2691C> T (p.Asn897=) single nucleotide variant Benign/Likely benign rs35125534 GRCh38 Chromosome 12, 13564547: 13564547
12 GRIN2B NM_000834.4(GRIN2B): c.1341C> T (p.Asp447=) single nucleotide variant Benign rs35025065 GRCh37 Chromosome 12, 13768586: 13768586
13 GRIN2B NM_000834.4(GRIN2B): c.1341C> T (p.Asp447=) single nucleotide variant Benign rs35025065 GRCh38 Chromosome 12, 13615652: 13615652
14 GRIN2B NM_000834.4(GRIN2B): c.465C> A (p.Ser155=) single nucleotide variant Benign rs115189840 GRCh37 Chromosome 12, 13906796: 13906796
15 GRIN2B NM_000834.4(GRIN2B): c.465C> A (p.Ser155=) single nucleotide variant Benign rs115189840 GRCh38 Chromosome 12, 13753862: 13753862
16 GRIN2B NM_000834.4(GRIN2B): c.3498C> T (p.Ser1166=) single nucleotide variant Benign rs45600931 GRCh37 Chromosome 12, 13716674: 13716674
17 GRIN2B NM_000834.4(GRIN2B): c.3498C> T (p.Ser1166=) single nucleotide variant Benign rs45600931 GRCh38 Chromosome 12, 13563740: 13563740
18 GRIN2B NM_000834.4(GRIN2B): c.504C> A (p.Ile168=) single nucleotide variant Benign/Likely benign rs36031537 GRCh37 Chromosome 12, 13906757: 13906757
19 GRIN2B NM_000834.4(GRIN2B): c.504C> A (p.Ile168=) single nucleotide variant Benign/Likely benign rs36031537 GRCh38 Chromosome 12, 13753823: 13753823
20 GRIN2B NM_000834.4(GRIN2B): c.870C> T (p.Pro290=) single nucleotide variant Benign/Likely benign rs1124894 GRCh37 Chromosome 12, 13906391: 13906391
21 GRIN2B NM_000834.4(GRIN2B): c.870C> T (p.Pro290=) single nucleotide variant Benign/Likely benign rs1124894 GRCh38 Chromosome 12, 13753457: 13753457
22 GRIN2B NM_000834.4(GRIN2B): c.228C> T (p.Thr76=) single nucleotide variant Benign/Likely benign rs77299791 GRCh37 Chromosome 12, 14018915: 14018915
23 GRIN2B NM_000834.4(GRIN2B): c.228C> T (p.Thr76=) single nucleotide variant Benign/Likely benign rs77299791 GRCh38 Chromosome 12, 13865981: 13865981
24 GRIN2B NM_000834.4(GRIN2B): c.1338A> G (p.Thr446=) single nucleotide variant Benign/Likely benign rs141031272 GRCh37 Chromosome 12, 13768589: 13768589
25 GRIN2B NM_000834.4(GRIN2B): c.1338A> G (p.Thr446=) single nucleotide variant Benign/Likely benign rs141031272 GRCh38 Chromosome 12, 13615655: 13615655
26 GRIN2B NM_000834.3(GRIN2B): c.3117C> T (p.Tyr1039=) single nucleotide variant Benign/Likely benign rs147762014 GRCh37 Chromosome 12, 13717055: 13717055
27 GRIN2B NM_000834.3(GRIN2B): c.3117C> T (p.Tyr1039=) single nucleotide variant Benign/Likely benign rs147762014 GRCh38 Chromosome 12, 13564121: 13564121
28 GRIN2B NM_000834.4(GRIN2B): c.3807A> T (p.Pro1269=) single nucleotide variant Conflicting interpretations of pathogenicity rs78765966 GRCh37 Chromosome 12, 13716365: 13716365
29 GRIN2B NM_000834.4(GRIN2B): c.3807A> T (p.Pro1269=) single nucleotide variant Conflicting interpretations of pathogenicity rs78765966 GRCh38 Chromosome 12, 13563431: 13563431
30 GRIN2B NM_000834.4(GRIN2B): c.1853T> G (p.Val618Gly) single nucleotide variant Pathogenic rs672601376 GRCh37 Chromosome 12, 13761694: 13761694
31 GRIN2B NM_000834.4(GRIN2B): c.1853T> G (p.Val618Gly) single nucleotide variant Pathogenic rs672601376 GRCh38 Chromosome 12, 13608760: 13608760
32 GRIN2B NM_000834.3(GRIN2B): c.1844A> T (p.Asn615Ile) single nucleotide variant Pathogenic rs672601377 GRCh37 Chromosome 12, 13761703: 13761703
33 GRIN2B NM_000834.3(GRIN2B): c.1844A> T (p.Asn615Ile) single nucleotide variant Pathogenic rs672601377 GRCh38 Chromosome 12, 13608769: 13608769
34 GRIN2B NM_000834.4(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh37 Chromosome 12, 13716373: 13716373
35 GRIN2B NM_000834.4(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh38 Chromosome 12, 13563439: 13563439
36 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh37 Chromosome 12, 13716425: 13716425
37 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh38 Chromosome 12, 13563491: 13563491
38 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh37 Chromosome 12, 13716620: 13716620
39 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh38 Chromosome 12, 13563686: 13563686
40 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201963596 GRCh38 Chromosome 12, 13564162: 13564162
41 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201963596 GRCh37 Chromosome 12, 13717096: 13717096
42 GRIN2B NM_000834.4(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh37 Chromosome 12, 13717125: 13717125
43 GRIN2B NM_000834.4(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh38 Chromosome 12, 13564191: 13564191
44 GRIN2B NM_000834.3(GRIN2B): c.2936A> T (p.Asn979Ile) single nucleotide variant Uncertain significance rs796052574 GRCh37 Chromosome 12, 13717236: 13717236
45 GRIN2B NM_000834.3(GRIN2B): c.2936A> T (p.Asn979Ile) single nucleotide variant Uncertain significance rs796052574 GRCh38 Chromosome 12, 13564302: 13564302
46 GRIN2B NM_000834.4(GRIN2B): c.2931C> G (p.Asp977Glu) single nucleotide variant Uncertain significance rs147956755 GRCh38 Chromosome 12, 13564307: 13564307
47 GRIN2B NM_000834.4(GRIN2B): c.2931C> G (p.Asp977Glu) single nucleotide variant Uncertain significance rs147956755 GRCh37 Chromosome 12, 13717241: 13717241
48 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh38 Chromosome 12, 13608755: 13608755
49 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh37 Chromosome 12, 13761689: 13761689
50 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh38 Chromosome 12, 13611717: 13611717

Expression for Epileptic Encephalopathy, Early Infantile, 27

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 27.

Pathways for Epileptic Encephalopathy, Early Infantile, 27

GO Terms for Epileptic Encephalopathy, Early Infantile, 27

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