EIEE59
MCID: EPL216
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 59 (EIEE59)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 59

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 59:

Name: Epileptic Encephalopathy, Early Infantile, 59 58 76
Early Infantile Epileptic Encephalopathy 59 12 30 6
Eiee59 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy
seizures are usually refractory


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 59

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 59: 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. EIEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 59, is also known as early infantile epileptic encephalopathy 59. An important gene associated with Epileptic Encephalopathy, Early Infantile, 59 is GABBR2 (Gamma-Aminobutyric Acid Type B Receptor Subunit 2). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABBR2 gene on chromosome 9q22.

Description from OMIM: 617904

Related Diseases for Epileptic Encephalopathy, Early Infantile, 59

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 59

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 59:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 sleep disturbance 33 HP:0002360
4 self-injurious behavior 33 HP:0100716
5 absent speech 33 HP:0001344
6 inability to walk 33 HP:0002540
7 ventriculomegaly 33 HP:0002119
8 epileptic encephalopathy 33 HP:0200134
9 hypsarrhythmia 33 HP:0002521

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
absent speech
epileptic encephalopathy
hypsarrhythmia
sleep disturbances
more
Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
aggressive outbursts

Head And Neck Head:
poor head control

Head And Neck Eyes:
poor visual contact

Skeletal Spine:
scoliosis

Head And Neck Mouth:
drooling

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617904

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 59

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 59

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 59

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 59:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 59 30 GABBR2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 59

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 59:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 59

Articles related to Epileptic Encephalopathy, Early Infantile, 59:

# Title Authors Year
1
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. ( 28856709 )
2017
2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. ( 29100083 )
2017
3
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. ( 25262651 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 59

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 59:

76
# Symbol AA change Variation ID SNP ID
1 GABBR2 p.Ser695Ile VAR_080570
2 GABBR2 p.Ile705Asn VAR_080571

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 59:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABBR2 NM_005458.7(GABBR2): c.2077G> T (p.Gly693Trp) single nucleotide variant Pathogenic rs1554689320 GRCh38 Chromosome 9, 98306273: 98306273
2 GABBR2 NM_005458.7(GABBR2): c.2077G> T (p.Gly693Trp) single nucleotide variant Pathogenic rs1554689320 GRCh37 Chromosome 9, 101068555: 101068555
3 GABBR2 NM_005458.7(GABBR2): c.2084G> T (p.Ser695Ile) single nucleotide variant Pathogenic rs1554689319 GRCh38 Chromosome 9, 98306266: 98306266
4 GABBR2 NM_005458.7(GABBR2): c.2084G> T (p.Ser695Ile) single nucleotide variant Pathogenic rs1554689319 GRCh37 Chromosome 9, 101068548: 101068548
5 GABBR2 NM_005458.7(GABBR2): c.2114T> A (p.Ile705Asn) single nucleotide variant Pathogenic rs1554689315 GRCh38 Chromosome 9, 98306236: 98306236
6 GABBR2 NM_005458.7(GABBR2): c.2114T> A (p.Ile705Asn) single nucleotide variant Pathogenic rs1554689315 GRCh37 Chromosome 9, 101068518: 101068518

Expression for Epileptic Encephalopathy, Early Infantile, 59

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 59.

Pathways for Epileptic Encephalopathy, Early Infantile, 59

GO Terms for Epileptic Encephalopathy, Early Infantile, 59

Sources for Epileptic Encephalopathy, Early Infantile, 59

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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