EDK
Editome Disease Knowledgebase
Epileptic
| Disease name | Epileptic |
|---|---|
| Classfication | Nervous system disease |
| Related Enzyme(s) | |
| EFO | EFO:0000474 |
| DOID | 1826 |
| OMIM | |
| NCI | |
| Definition | Epilepsy is a group of neurological disorders characterized by epileptic seizures. Epileptic seizures are episodes that can vary from brief and nearly undetectable periods to long periods of vigorous shaking. These episodes can result in physical injuries, including occasionally broken bones. |
| Gene symbol | Species | Enzyme | Editing site(s) | Editing Type | PMID | RADAR | REDIportal | Description |
|---|---|---|---|---|---|---|---|---|
| GRIK1 | Human;Rat;Mouse | ADAR2 | 1 | A-to-I | It remains unclear whether changes in GluR2 mRNA editing occurs in particular populations of neurons. Furthermore, it is rather unlikely that the significant Increase in GluR5-editing efficiency in the temporal cortex tissue is an essential part of the pathogenesis of epilepsy. | |||
| GRIK2 | Human;Rat;Mouse | ADAR2 | 1 | A-to-I | It remains unclear whether changes in GluR2 mRNA editing occurs in particular populations of neurons. Furthermore, it is rather unlikely that the significant Increase in GluR5-editing efficiency in the temporal cortex tissue is an essential part of the pathogenesis of epilepsy. |
| Enzyme | Full Name | Location | Ensembl | Targets | Related Diseases | Aliases |
|---|---|---|---|---|---|---|
| ADAR2 | Adenosine deaminase, RNA specific B1 | Chr21:45074578..45226563 |
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