MCID: ERL003
MIFTS: 24

Early Onset Absence Epilepsy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early Onset Absence Epilepsy

MalaCards integrated aliases for Early Onset Absence Epilepsy:

Name: Early Onset Absence Epilepsy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050708

Summaries for Early Onset Absence Epilepsy

Disease Ontology : 12 A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.

MalaCards based summary : Early Onset Absence Epilepsy is related to epilepsy and childhood absence epilepsy. An important gene associated with Early Onset Absence Epilepsy is SLC2A1 (Solute Carrier Family 2 Member 1), and among its related pathways/superpathways are NRF2 pathway and HIF1Alpha Pathway. Related phenotype is growth/size/body region.

Related Diseases for Early Onset Absence Epilepsy

Graphical network of the top 20 diseases related to Early Onset Absence Epilepsy:



Diseases related to Early Onset Absence Epilepsy

Symptoms & Phenotypes for Early Onset Absence Epilepsy

MGI Mouse Phenotypes related to Early Onset Absence Epilepsy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.1 ADA ADAR CHRNB2 SCN1B SLC2A1 SLC2A3

Drugs & Therapeutics for Early Onset Absence Epilepsy

Search Clinical Trials , NIH Clinical Center for Early Onset Absence Epilepsy

Genetic Tests for Early Onset Absence Epilepsy

Anatomical Context for Early Onset Absence Epilepsy

Publications for Early Onset Absence Epilepsy

Articles related to Early Onset Absence Epilepsy:

(show all 14)
# Title Authors Year
1
Myoclonic jerks are commonly associated with absence seizures in early-onset absence epilepsy. ( 28540848 )
2017
2
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome. ( 26615362 )
2015
3
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. ( 23020086 )
2013
4
Early onset absence epilepsy: what changes using Panayiotopoulos's criteria? ( 23550934 )
2013
5
Clinical dissection of early onset absence epilepsy in children and prognostic implications. ( 24032425 )
2013
6
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study. ( 24099057 )
2013
7
Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report. ( 24169439 )
2013
8
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. ( 23106342 )
2012
9
A clinical and genetic study of 33 new cases with early-onset absence epilepsy. ( 21546213 )
2011
10
Early-onset absence epilepsy at eight months of age. ( 22258047 )
2011
11
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. ( 19798636 )
2009
12
Early-onset absence epilepsy: clinical and electroencephalographic features in three children. ( 16376505 )
2006
13
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. ( 14504340 )
2003
14
Early-onset absence epilepsy and paroxysmal dyskinesia. ( 12366739 )
2002

Variations for Early Onset Absence Epilepsy

Expression for Early Onset Absence Epilepsy

Search GEO for disease gene expression data for Early Onset Absence Epilepsy.

Pathways for Early Onset Absence Epilepsy

Pathways related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 SLC2A1 SLC2A14 SLC2A3
2 10.99 SLC2A1 SLC2A3
3
Show member pathways
10.8 SLC2A1 SLC2A14 SLC2A3
4 10.72 SLC2A1 SLC2A3

GO Terms for Early Onset Absence Epilepsy

Cellular components related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.56 CHRNB2 GJA8 SLC2A1 SLC2A3
2 membrane GO:0016020 9.56 ADA ADAR CHRNB2 GJA8 SCN1B SLC2A1
3 plasma membrane GO:0005886 9.17 ADA CHRNB2 GJA8 SCN1B SLC2A1 SLC2A14
4 intercalated disc GO:0014704 9.16 SCN1B SLC2A1

Biological processes related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.62 GJA8 SLC2A1 SLC2A14 SLC2A3
2 response to hypoxia GO:0001666 9.54 ADA CHRNB2 SLC2A1
3 positive regulation of B cell proliferation GO:0030890 9.43 ADA CHRNB2
4 membrane depolarization GO:0051899 9.4 CHRNB2 SCN1B
5 L-ascorbic acid metabolic process GO:0019852 9.26 SLC2A1 SLC2A3
6 carbohydrate transport GO:0008643 9.13 SLC2A1 SLC2A14 SLC2A3
7 dehydroascorbic acid transport GO:0070837 8.85 SLC2A1
8 glucose transmembrane transport GO:1904659 8.8 SLC2A1 SLC2A14 SLC2A3

Molecular functions related to Early Onset Absence Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.5 SLC2A1 SLC2A14 SLC2A3
2 adenosine deaminase activity GO:0004000 9.26 ADA ADAR
3 glucose transmembrane transporter activity GO:0005355 9.13 SLC2A1 SLC2A14 SLC2A3
4 dehydroascorbic acid transmembrane transporter activity GO:0033300 8.85 SLC2A1
5 D-glucose transmembrane transporter activity GO:0055056 8.32 SLC2A1

Sources for Early Onset Absence Epilepsy

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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