Parameter
| Biomarker | IDH1 R132H Mut | Full name | Isocitrate Dehydrogenase 1 R132H Mutation | Molecular Type | Gene Mutation |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease | Epilepsy | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue (NGS, Immunohistochemistry) | ||
| Pathobiological Mechanisms | Mutation leads to abnormal isocitrate dehydrogenase function, excessive production of D-2-hydroxyglutarate (D2HG), enhances neuronal excitability. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Incidence exceeds 70% in low-grade glioma patients; mutation carriers have a 3-fold higher preoperative epilepsy risk than wild-type. | ||||