MCID: EPL135
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 27

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 27

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

Name: Epileptic Encephalopathy, Early Infantile, 27 57 75 29 6 73
Eiee27 57 75
Encephalopathy, Epileptic, Early Infantile, Type 27 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 27:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 27

OMIM : 57 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, is also known as eiee27, 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, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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 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
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, 27

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 absent speech 32 HP:0001344
5 generalized hypotonia 32 HP:0001290
6 epileptic encephalopathy 32 HP:0200134

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 29 GRIN2B

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 27

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

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 27

Variations for Epileptic Encephalopathy, Early Infantile, 27

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

75
# 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 166)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2B NM_000834.4(GRIN2B): c.1853T> G (p.Val618Gly) single nucleotide variant Pathogenic rs672601376 GRCh37 Chromosome 12, 13761694: 13761694
2 GRIN2B NM_000834.4(GRIN2B): c.1853T> G (p.Val618Gly) single nucleotide variant Pathogenic rs672601376 GRCh38 Chromosome 12, 13608760: 13608760
3 GRIN2B NM_000834.3(GRIN2B): c.1844A> T (p.Asn615Ile) single nucleotide variant Pathogenic rs672601377 GRCh37 Chromosome 12, 13761703: 13761703
4 GRIN2B NM_000834.3(GRIN2B): c.1844A> T (p.Asn615Ile) single nucleotide variant Pathogenic rs672601377 GRCh38 Chromosome 12, 13608769: 13608769
5 GRIN2B NM_000834.3(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh37 Chromosome 12, 13716373: 13716373
6 GRIN2B NM_000834.3(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh38 Chromosome 12, 13563439: 13563439
7 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh37 Chromosome 12, 13716425: 13716425
8 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh38 Chromosome 12, 13563491: 13563491
9 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh37 Chromosome 12, 13716620: 13716620
10 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh38 Chromosome 12, 13563686: 13563686
11 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Uncertain significance rs201963596 GRCh38 Chromosome 12, 13564162: 13564162
12 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Uncertain significance rs201963596 GRCh37 Chromosome 12, 13717096: 13717096
13 GRIN2B NM_000834.3(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh37 Chromosome 12, 13717125: 13717125
14 GRIN2B NM_000834.3(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh38 Chromosome 12, 13564191: 13564191
15 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh38 Chromosome 12, 13608755: 13608755
16 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh37 Chromosome 12, 13761689: 13761689
17 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh38 Chromosome 12, 13611717: 13611717
18 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh37 Chromosome 12, 13764651: 13764651
19 GRIN2B NM_000834.4(GRIN2B): c.291G> A (p.Val97=) single nucleotide variant Conflicting interpretations of pathogenicity rs202223470 GRCh37 Chromosome 12, 14018852: 14018852
20 GRIN2B NM_000834.4(GRIN2B): c.291G> A (p.Val97=) single nucleotide variant Conflicting interpretations of pathogenicity rs202223470 GRCh38 Chromosome 12, 13865918: 13865918
21 GRIN2B NM_000834.4(GRIN2B): c.190G> A (p.Val64Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150070901 GRCh37 Chromosome 12, 14018953: 14018953
22 GRIN2B NM_000834.4(GRIN2B): c.190G> A (p.Val64Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150070901 GRCh38 Chromosome 12, 13866019: 13866019
23 GRIN2B NM_000834.4(GRIN2B): c.140A> G (p.Glu47Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs199526748 GRCh38 Chromosome 12, 13866069: 13866069
24 GRIN2B NM_000834.4(GRIN2B): c.140A> G (p.Glu47Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs199526748 GRCh37 Chromosome 12, 14019003: 14019003
25 GRIN2B NM_000834.4(GRIN2B): c.61G> A (p.Val21Met) single nucleotide variant Conflicting interpretations of pathogenicity rs79046967 GRCh38 Chromosome 12, 13866148: 13866148
26 GRIN2B NM_000834.4(GRIN2B): c.61G> A (p.Val21Met) single nucleotide variant Conflicting interpretations of pathogenicity rs79046967 GRCh37 Chromosome 12, 14019082: 14019082
27 GRIN2B NM_000834.3(GRIN2B): c.2459G> C (p.Gly820Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797044849 GRCh37 Chromosome 12, 13720098: 13720098
28 GRIN2B NM_000834.3(GRIN2B): c.2459G> C (p.Gly820Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797044849 GRCh38 Chromosome 12, 13567164: 13567164
29 GRIN2B NM_000834.3(GRIN2B): c.1851C> T (p.Ser617=) single nucleotide variant Conflicting interpretations of pathogenicity rs147373250 GRCh37 Chromosome 12, 13761696: 13761696
30 GRIN2B NM_000834.3(GRIN2B): c.1851C> T (p.Ser617=) single nucleotide variant Conflicting interpretations of pathogenicity rs147373250 GRCh38 Chromosome 12, 13608762: 13608762
31 GRIN2B NM_000834.3(GRIN2B): c.2053A> C (p.Thr685Pro) single nucleotide variant Pathogenic rs869312669 GRCh37 Chromosome 12, 13724856: 13724856
32 GRIN2B NM_000834.3(GRIN2B): c.2053A> C (p.Thr685Pro) single nucleotide variant Pathogenic rs869312669 GRCh38 Chromosome 12, 13571922: 13571922
33 GRIN2B NM_000834.4(GRIN2B): c.3174C> T (p.Ser1058=) single nucleotide variant Conflicting interpretations of pathogenicity rs772364390 GRCh38 Chromosome 12, 13564064: 13564064
34 GRIN2B NM_000834.4(GRIN2B): c.3174C> T (p.Ser1058=) single nucleotide variant Conflicting interpretations of pathogenicity rs772364390 GRCh37 Chromosome 12, 13716998: 13716998
35 GRIN2B NM_000834.3(GRIN2B): c.3088_3090delTCC (p.Ser1030del) deletion Uncertain significance rs878854145 GRCh37 Chromosome 12, 13717082: 13717084
36 GRIN2B NM_000834.3(GRIN2B): c.3088_3090delTCC (p.Ser1030del) deletion Uncertain significance rs878854145 GRCh38 Chromosome 12, 13564148: 13564150
37 GRIN2B NM_000834.3(GRIN2B): c.4113C> T (p.Tyr1371=) single nucleotide variant Conflicting interpretations of pathogenicity rs146792012 GRCh38 Chromosome 12, 13563125: 13563125
38 GRIN2B NM_000834.3(GRIN2B): c.4113C> T (p.Tyr1371=) single nucleotide variant Conflicting interpretations of pathogenicity rs146792012 GRCh37 Chromosome 12, 13716059: 13716059
39 GRIN2B NM_000834.4(GRIN2B): c.3389G> A (p.Arg1130Gln) single nucleotide variant Likely benign rs148625092 GRCh37 Chromosome 12, 13716783: 13716783
40 GRIN2B NM_000834.4(GRIN2B): c.3389G> A (p.Arg1130Gln) single nucleotide variant Likely benign rs148625092 GRCh38 Chromosome 12, 13563849: 13563849
41 GRIN2B NM_000834.3(GRIN2B): c.3339G> A (p.Pro1113=) single nucleotide variant Likely benign rs200660626 GRCh37 Chromosome 12, 13716833: 13716833
42 GRIN2B NM_000834.3(GRIN2B): c.3339G> A (p.Pro1113=) single nucleotide variant Likely benign rs200660626 GRCh38 Chromosome 12, 13563899: 13563899
43 GRIN2B NM_000834.4(GRIN2B): c.2703G> A (p.Leu901=) single nucleotide variant Conflicting interpretations of pathogenicity rs145005918 GRCh37 Chromosome 12, 13717469: 13717469
44 GRIN2B NM_000834.4(GRIN2B): c.2703G> A (p.Leu901=) single nucleotide variant Conflicting interpretations of pathogenicity rs145005918 GRCh38 Chromosome 12, 13564535: 13564535
45 GRIN2B NM_000834.3(GRIN2B): c.2481G> A (p.Ala827=) single nucleotide variant Conflicting interpretations of pathogenicity rs189384622 GRCh37 Chromosome 12, 13720076: 13720076
46 GRIN2B NM_000834.3(GRIN2B): c.2481G> A (p.Ala827=) single nucleotide variant Conflicting interpretations of pathogenicity rs189384622 GRCh38 Chromosome 12, 13567142: 13567142
47 GRIN2B NM_000834.4(GRIN2B): c.2202A> G (p.Ala734=) single nucleotide variant Benign rs148185805 GRCh37 Chromosome 12, 13722921: 13722921
48 GRIN2B NM_000834.4(GRIN2B): c.2202A> G (p.Ala734=) single nucleotide variant Benign rs148185805 GRCh38 Chromosome 12, 13569987: 13569987
49 GRIN2B NM_000834.3(GRIN2B): c.2172-6G> A single nucleotide variant Likely benign rs201390691 GRCh37 Chromosome 12, 13722957: 13722957
50 GRIN2B NM_000834.3(GRIN2B): c.2172-6G> A single nucleotide variant Likely benign rs201390691 GRCh38 Chromosome 12, 13570023: 13570023

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

Sources for Epileptic Encephalopathy, Early Infantile, 27

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