EIEE17
MCID: EPL119
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 17 (EIEE17)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75 73
Eiee17 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy


HPO:

32
epileptic encephalopathy, early infantile, 17:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 17

OMIM : 57 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)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 17, also known as eiee17, is related to encephalopathy, and has symptoms including tonic seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 17 is GNAO1 (G Protein Subunit Alpha O1). Affiliated tissues include brain, liver and eye, and related phenotypes are chorea and global developmental delay

UniProtKB/Swiss-Prot : 75 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 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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

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

# Related Disease Score Top Affiliating Genes
1 encephalopathy 10.1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 17

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
cerebral atrophy
hypsarrhythmia
epileptic encephalopathy
delayed myelination
dystonia (in some patients)
more

Clinical features from OMIM:

615473

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 chorea 32 occasional (7.5%) HP:0002072
2 global developmental delay 32 HP:0001263
3 absent speech 32 HP:0001344
4 dystonia 32 occasional (7.5%) HP:0001332
5 hypoplasia of the corpus callosum 32 HP:0002079
6 cerebral atrophy 32 HP:0002059
7 athetosis 32 occasional (7.5%) HP:0002305
8 hypsarrhythmia 32 HP:0002521
9 generalized tonic seizures 32 HP:0010818
10 epileptic encephalopathy 32 HP:0200134
11 delayed myelination 32 HP:0012448

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 17

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

41
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 17

Articles related to Epileptic Encephalopathy, Early Infantile, 17:

# Title Authors Year
1
Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)? ( 24700286 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 17

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

75
# 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

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

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAO1 NM_020988.2(GNAO1): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs587777054 GRCh37 Chromosome 16, 56385408: 56385408
2 GNAO1 NM_020988.2(GNAO1): c.836T> A (p.Ile279Asn) single nucleotide variant Pathogenic rs587777054 GRCh38 Chromosome 16, 56351496: 56351496
3 GNAO1 NM_020988.2(GNAO1): c.521A> G (p.Asp174Gly) single nucleotide variant Pathogenic rs587777055 GRCh37 Chromosome 16, 56368697: 56368697
4 GNAO1 NM_020988.2(GNAO1): c.521A> G (p.Asp174Gly) single nucleotide variant Pathogenic rs587777055 GRCh38 Chromosome 16, 56334785: 56334785
5 GNAO1 NM_020988.2(GNAO1): c.572_592del21 (p.Thr191_Phe197del) deletion Pathogenic rs587777056 GRCh37 Chromosome 16, 56368748: 56368768
6 GNAO1 NM_020988.2(GNAO1): c.572_592del21 (p.Thr191_Phe197del) deletion Pathogenic rs587777056 GRCh38 Chromosome 16, 56334836: 56334856
7 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
8 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh38 Chromosome 16, 56336744: 56336744
9 GNAO1 NM_020988.2(GNAO1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045599 GRCh37 Chromosome 16, 56370729: 56370729
10 GNAO1 NM_020988.2(GNAO1): c.680C> T (p.Ala227Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045599 GRCh38 Chromosome 16, 56336817: 56336817
11 GNAO1 NM_138736.2(GNAO1): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs1057518678 GRCh37 Chromosome 16, 56370741: 56370741
12 GNAO1 NM_138736.2(GNAO1): c.692A> G (p.Tyr231Cys) single nucleotide variant Pathogenic rs1057518678 GRCh38 Chromosome 16, 56336829: 56336829
13 GNAO1 NM_138736.2(GNAO1): c.626G> T (p.Arg209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs797044878 GRCh37 Chromosome 16, 56370675: 56370675
14 GNAO1 NM_138736.2(GNAO1): c.626G> T (p.Arg209Leu) single nucleotide variant Pathogenic/Likely pathogenic rs797044878 GRCh38 Chromosome 16, 56336763: 56336763
15 GNAO1 NM_020988.2(GNAO1): c.143C> T (p.Thr48Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 56226510: 56226510
16 GNAO1 NM_020988.2(GNAO1): c.143C> T (p.Thr48Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 56192598: 56192598
17 GNAO1 NM_138736.2(GNAO1): c.901G> C (p.Val301Leu) single nucleotide variant Uncertain significance rs539641021 GRCh38 Chromosome 16, 56343786: 56343786
18 GNAO1 NM_138736.2(GNAO1): c.901G> C (p.Val301Leu) single nucleotide variant Uncertain significance rs539641021 GRCh37 Chromosome 16, 56377698: 56377698
19 GNAO1 NM_020988.2(GNAO1): c.851T> C (p.Leu284Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 56351511: 56351511
20 GNAO1 NM_020988.2(GNAO1): c.851T> C (p.Leu284Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 56385423: 56385423

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

GO Terms for Epileptic Encephalopathy, Early Infantile, 17

Sources for Epileptic Encephalopathy, Early Infantile, 17

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71 TGDB
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74 UMLS via Orphanet
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