EIEE17
MCID: EPL119
MIFTS: 41

Epileptic Encephalopathy, Early Infantile, 17 (EIEE17)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 17

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 17:

Name: Epileptic Encephalopathy, Early Infantile, 17 56 73 71
Early Infantile Epileptic Encephalopathy 17 12 29 6 15
Eiee17 56 73
Encephalopathy, Epileptic, Early Infantile, Type 17 39
Early Infantile Epileptic Encephalopathy-17 52
Gnao1 Encephalopathy 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


HPO:

31
epileptic encephalopathy, early infantile, 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080450
OMIM 56 615473
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
UMLS 71 C3809606

Summaries for Epileptic Encephalopathy, Early Infantile, 17

NIH Rare Diseases : 52 GNAO1 encephalopathy is a rare neurologic disorder that causes developmental delay , early infantile seizures , and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability , poor muscle tone (hypotonia ), irregular muscle contractions (chorea ), and involuntary movements of the face and tongue (dyskinesia). The severity of symptoms can vary. Symptoms may be triggered by strong emotions, illness, and purposeful movements. GNAO1 encephalopathy is caused by mutations in the GNAO1 gene and inheritance is autosomal dominant . Treatment aims to relieve individual symptoms and may not be effective for all people. In some cases, movement disorders have improved after the placement of a deep brain stimulator (DBS) device. Some have had improvement of seizures with anti-seizure medications or with a ketogenic diet , but others have not. While the long-term outcome has not been well-studied, the disease is typically very severe, with some people losing their motor skills in the early stages of the disease.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 17, also known as early infantile epileptic encephalopathy 17, is related to encephalopathy and early infantile epileptic encephalopathy, and has symptoms including tonic seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 17 is GNAO1 (G Protein Subunit Alpha O1), and among its related pathways/superpathways are fMLP Pathway and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include brain, tongue and testes, and related phenotypes are dystonia and chorea

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has material basis in heterozygous mutation in the GNAO1 gene on chromosome 16q13.

OMIM : 56 Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (615473)

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 17: A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 17

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 29.9 MECP2 GNAO1 ARX
2 early infantile epileptic encephalopathy 29.9 MECP2 GNAO1 ARX
3 movement disease 10.3
4 neurodevelopmental disorder with involuntary movements 10.1
5 microcephaly 10.1
6 astrocytoma 10.1
7 fibrillary astrocytoma 10.1
8 cerebral atrophy 10.1
9 epileptic encephalopathy, early infantile, 1 10.1 GNAO1 ARX
10 infancy electroclinical syndrome 9.9 MECP2 ARX
11 electroclinical syndrome 9.9 MECP2 ARX
12 neonatal period electroclinical syndrome 9.9 MECP2 ARX
13 syndromic x-linked intellectual disability 9.8 MECP2 ARX
14 congenital nervous system abnormality 9.7 MECP2 ARX
15 hypocalcemia, autosomal dominant 2 9.7 GNA15 GNA11
16 hypocalciuric hypercalcemia, familial, type ii 9.7 GNA15 GNA11
17 pseudopseudohypoparathyroidism 9.7 GNA15 GNA11
18 charcot-marie-tooth disease, dominant intermediate f 9.7 GNA15 GNA11
19 epileptic encephalopathy, early infantile, 6 9.7 MECP2 ARX
20 west syndrome 9.7 MECP2 GNAO1 ARX
21 pseudohypoparathyroidism, type ia 9.6 GNA15 GNA11
22 sturge-weber syndrome 9.6 GNA15 GNA11
23 osseous heteroplasia, progressive 9.6 GNA15 GNA11
24 mccune-albright syndrome 9.5 GNA15 GNA11
25 syndromic intellectual disability 9.5 MECP2 ARX

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 17:



Diseases related to Epileptic Encephalopathy, Early Infantile, 17

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 17

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 17:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 occasional (7.5%) HP:0001332
2 chorea 31 occasional (7.5%) HP:0002072
3 athetosis 31 occasional (7.5%) HP:0002305
4 global developmental delay 31 HP:0001263
5 absent speech 31 HP:0001344
6 hypoplasia of the corpus callosum 31 HP:0002079
7 cerebral atrophy 31 HP:0002059
8 hypsarrhythmia 31 HP:0002521
9 epileptic encephalopathy 31 HP:0200134
10 delayed myelination 31 HP:0012448
11 generalized tonic seizure 31 HP:0010818

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
delayed myelination
tonic seizures
more

Clinical features from OMIM:

615473

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 17:


tonic seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 17

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 17

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 17

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 17:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 17 29 GNAO1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 17

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 17:

40
Brain, Tongue, Testes

Publications for Epileptic Encephalopathy, Early Infantile, 17

Articles related to Epileptic Encephalopathy, Early Infantile, 17:

# Title Authors PMID Year
1
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 6 56
25966631 2016
2
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 56 6
23993195 2013
3
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 6 52
28747448 2017
4
Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)? 56
24700286 2014
5
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
6
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
7
A mechanistic review on GNAO1-associated movement disorder. 61
29758257 2018
8
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. 61
29961512 2018
9
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. 61
27072799 2016

Variations for Epileptic Encephalopathy, Early Infantile, 17

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 17:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAO1 NM_020988.3(GNAO1):c.851T>C (p.Leu284Ser)SNV Pathogenic 496687 rs1555508316 16:56385423-56385423 16:56351511-56351511
2 GNAO1 NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn)SNV Pathogenic 66112 rs587777054 16:56385408-56385408 16:56351496-56351496
3 GNAO1 NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly)SNV Pathogenic 66113 rs587777055 16:56368697-56368697 16:56334785-56334785
4 GNAO1 NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del)deletion Pathogenic 66114 rs587777056 16:56368740-56368760 16:56334828-56334848
5 GNAO1 NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)SNV Pathogenic 66115 rs587777057 16:56370656-56370656 16:56336744-56336744
6 GNAO1 NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg)SNV Pathogenic 803257 16:56370656-56370656 16:56336744-56336744
7 GNAO1 NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)SNV Pathogenic 374381 rs1057518678 16:56370741-56370741 16:56336829-56336829
8 GNAO1 NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)SNV Pathogenic/Likely pathogenic 211088 rs797045599 16:56370729-56370729 16:56336817-56336817
9 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)SNV Pathogenic/Likely pathogenic 420523 rs1064794533 16:56370758-56370758 16:56336846-56336846
10 GNAO1 NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu)SNV Pathogenic/Likely pathogenic 431699 rs797044878 16:56370675-56370675 16:56336763-56336763
11 GNAO1 NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)SNV Likely pathogenic 435341 rs1555499800 16:56226510-56226510 16:56192598-56192598
12 GNAO1 NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp)SNV Likely pathogenic 522843 rs1555507479 16:56370711-56370711 16:56336799-56336799
13 GNAO1 NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)SNV Likely pathogenic 666297 16:56226265-56226265 16:56192353-56192353
14 GNAO1 NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln)SNV Likely pathogenic 689763 16:56385308-56385308 16:56351396-56351396
15 GNAO1 NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)SNV Likely pathogenic 803255 16:56226510-56226510 16:56192598-56192598
16 GNAO1 NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)SNV Likely pathogenic 803256 16:56362690-56362690 16:56328778-56328778
17 GNAO1 NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)SNV Likely pathogenic 813742 16:56368685-56368685 16:56334773-56334773
18 GNAO1 NM_020988.3(GNAO1):c.731T>A (p.Met244Lys)SNV Likely pathogenic 870180 16:56385303-56385303 16:56351391-56351391
19 GNAO1 NM_020988.3(GNAO1):c.723+6926G>CSNV Uncertain significance 495256 rs539641021 16:56377698-56377698 16:56343786-56343786

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 17:

73
# Symbol AA change Variation ID SNP ID
1 GNAO1 p.Asp174Gly VAR_070864 rs587777055
2 GNAO1 p.Gly203Arg VAR_070866 rs587777057
3 GNAO1 p.Ile279Asn VAR_070867 rs587777054
4 GNAO1 p.Gly40Arg VAR_075416 rs886041715
5 GNAO1 p.Arg209Cys VAR_077337 rs886039494

Expression for Epileptic Encephalopathy, Early Infantile, 17

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 17.

Pathways for Epileptic Encephalopathy, Early Infantile, 17

Pathways related to Epileptic Encephalopathy, Early Infantile, 17 according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 GNAO1 GNA15 GNA11
2
Show member pathways
12.6 GNAO1 GNA15 GNA11
3
Show member pathways
12.46 GNAO1 GNA15 GNA11
4
Show member pathways
12.34 GNAO1 GNA15 GNA11
5
Show member pathways
12.33 GNAO1 GNA15 GNA11
6 12.23 MECP2 GNAO1 GNA11
7
Show member pathways
12.2 GNAO1 GNA15 GNA11
8
Show member pathways
12.08 GNAO1 GNA15 GNA11
9 12.05 GNAO1 GNA15 GNA11
10
Show member pathways
11.99 GNAO1 GNA15 GNA11
11
Show member pathways
11.91 GNAO1 GNA15 GNA11
12
Show member pathways
11.73 GNAO1 GNA15 GNA11
13 11.63 GNA15 GNA11
14 11.58 GNAO1 GNA11
15
Show member pathways
11.57 GNAO1 GNA15
16
Show member pathways
11.52 GNAO1 GNA15 GNA11
17 11.35 GNAO1 GNA11
18 11.3 GNAO1 GNA15 GNA11
19 11.26 GNA15 GNA11
20 11.22 GNA15 GNA11
21
Show member pathways
11.19 GNAO1 GNA15 GNA11
22 11.03 GNA15 GNA11
23 10.68 GNAO1 GNA15 GNA11
24 10.61 GNAO1 GNA15 GNA11
25
Show member pathways
10.57 GNA15 GNA11

GO Terms for Epileptic Encephalopathy, Early Infantile, 17

Cellular components related to Epileptic Encephalopathy, Early Infantile, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.8 GNAO1 GNA15 GNA11

Biological processes related to Epileptic Encephalopathy, Early Infantile, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.32 GNA15 GNA11
2 locomotory behavior GO:0007626 9.26 MECP2 GNAO1
3 action potential GO:0001508 9.16 GNA15 GNA11
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 8.96 GNA15 GNA11
5 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 8.8 GNAO1 GNA15 GNA11

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.54 GNAO1 GNA15 GNA11
2 GTPase activity GO:0003924 9.5 GNAO1 GNA15 GNA11
3 G protein-coupled receptor binding GO:0001664 9.33 GNAO1 GNA15 GNA11
4 type 2A serotonin receptor binding GO:0031826 9.26 GNA15 GNA11
5 G-protein beta/gamma-subunit complex binding GO:0031683 9.13 GNAO1 GNA15 GNA11
6 guanyl nucleotide binding GO:0019001 8.8 GNAO1 GNA15 GNA11

Sources for Epileptic Encephalopathy, Early Infantile, 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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