MCID: ERL003
MIFTS: 24

Early Onset Absence Epilepsy

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Early Onset Absence Epilepsy

MalaCards integrated aliases for Early Onset Absence Epilepsy:

Name: Early Onset Absence Epilepsy 12 14

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 deafness, autosomal recessive 65. 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 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

Drugs & Therapeutics for Early Onset Absence Epilepsy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
2 Longitudinal Early Epilepsy Study Recruiting NCT02954107
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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)
id 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 aggravated by valproic acid: a video-EEG report. ( 24169439 )
2013
4
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study. ( 24099057 )
2013
5
Early onset absence epilepsy: what changes using Panayiotopoulos's criteria? ( 23550934 )
2013
6
Clinical dissection of early onset absence epilepsy in children and prognostic implications. ( 24032425 )
2013
7
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. ( 23020086 )
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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.61 ADA ADAR CHRNB2 GJA8 PRRT2 SCN1B
2 cell junction GO:0030054 9.46 ADA CHRNB2 GJA8 PRRT2
3 plasma membrane GO:0005886 9.23 ADA CHRNB2 GJA8 PRRT2 SCN1B SLC2A1
4 intercalated disc GO:0014704 8.96 SCN1B

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.85 CHRNB2 GJA8 SCN1B SLC2A1 SLC2A14 SLC2A3
2 transmembrane transport GO:0055085 9.73 GJA8 SLC2A1 SLC2A14 SLC2A3
3 regulation of postsynaptic membrane potential GO:0060078 9.48 CHRNB2 SCN1B
4 positive regulation of B cell proliferation GO:0030890 9.46 ADA CHRNB2
5 membrane depolarization GO:0051899 9.4 CHRNB2 SCN1B
6 carbohydrate transport GO:0008643 9.33 SLC2A1 SLC2A14 SLC2A3
7 L-ascorbic acid metabolic process GO:0019852 9.32 SLC2A1 SLC2A3
8 dehydroascorbic acid transport GO:0070837 9.26 SLC2A1 SLC2A3
9 glucose transport GO:0015758 9.13 SLC2A1 SLC2A14 SLC2A3
10 glucose transmembrane transport GO:1904659 8.8 SLC2A1 SLC2A14 SLC2A3

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.5 SLC2A1 SLC2A14 SLC2A3
2 adenosine deaminase activity GO:0004000 9.37 ADA ADAR
3 substrate-specific transmembrane transporter activity GO:0022891 9.33 SLC2A1 SLC2A14 SLC2A3
4 dehydroascorbic acid transporter activity GO:0033300 9.26 SLC2A1 SLC2A3
5 glucose transmembrane transporter activity GO:0005355 9.13 SLC2A1 SLC2A14 SLC2A3
6 D-glucose transmembrane transporter activity GO:0055056 8.8 SLC2A1 SLC2A14 SLC2A3

Sources for Early Onset Absence Epilepsy

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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