MCID: EPL216
MIFTS: 15

Epileptic Encephalopathy, Early Infantile, 59

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, 59

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

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

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617904

Summaries for Epileptic Encephalopathy, Early Infantile, 59

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).

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
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
Head And Neck Head:
poor head control

Head And Neck Mouth:
drooling

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
aggressive outbursts
self-injurious behavior

Head And Neck Eyes:
poor visual contact

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
epileptic encephalopathy
seizures, multiple types
developmental delay, profound
intellectual disability
absent speech
more

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 59

Publications for Epileptic Encephalopathy, Early Infantile, 59

Variations for Epileptic Encephalopathy, Early Infantile, 59

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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