EIEE59
MCID: EPL216
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 59 (EIEE59)

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, 59

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

Name: Epileptic Encephalopathy, Early Infantile, 59 57 75
Early Infantile Epileptic Encephalopathy 59 29 6
Eiee59 57 75

Characteristics:

OMIM:

57
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 : 75 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

Description from OMIM: 617904

Related Diseases for Epileptic Encephalopathy, Early Infantile, 59

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 59

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
absent speech
hypsarrhythmia
epileptic encephalopathy
enlarged ventricles
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 sleep disturbance 32 HP:0002360
4 self-injurious behavior 32 HP:0100716
5 absent speech 32 HP:0001344
6 inability to walk 32 HP:0002540
7 ventriculomegaly 32 HP:0002119
8 hypsarrhythmia 32 HP:0002521
9 epileptic encephalopathy 32 HP:0200134

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 29 GABBR2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 59

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

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 59

Variations for Epileptic Encephalopathy, Early Infantile, 59

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

75
# 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 GRCh38 Chromosome 9, 98306273: 98306273
2 GABBR2 NM_005458.7(GABBR2): c.2077G> T (p.Gly693Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 101068555: 101068555
3 GABBR2 NM_005458.7(GABBR2): c.2084G> T (p.Ser695Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 98306266: 98306266
4 GABBR2 NM_005458.7(GABBR2): c.2084G> T (p.Ser695Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 101068548: 101068548
5 GABBR2 NM_005458.7(GABBR2): c.2114T> A (p.Ile705Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 98306236: 98306236
6 GABBR2 NM_005458.7(GABBR2): c.2114T> A (p.Ile705Asn) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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