Parameter
| Biomarker | P2X7R rs208294 Polym | Full name | P2X7R Gene rs208294 Polymorphism | Molecular Type | Gene Polymorphism |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification |
| Disease | Epilepsy | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Peripheral Blood (Gene Sequencing, PCR-RFLP) | ||
| Pathobiological Mechanisms | Gain-of-function mutation enhances P2X7R-mediated inflammatory response, reducing the epileptic seizure threshold. | ||||
| Clinical Availability Status | Research stage | ||||
| Notes and Dynamics | Children carrying this mutation have a 2.8-fold higher risk of developing epilepsy from febrile convulsions than wild-type. | ||||