| Aquaporin-4 (AQP4) | Upregulated in reactive astrocytes surrounding cystic lesions, facilitating water clearance into the ventricular system |
| Transforming growth factor-beta (TGF-β) | Promotes astrogliosis and scar formation at the margins of cystic lesions |
| Caspase-3 | Activated in apoptotic cells within the penumbra, contributing to delayed neuronal death |
| Pro-inflammatory cytokines | IL-1β, TNF-α, and IL-6 promote inflammatory infiltration and contribute to secondary brain injury[@nguyen2009] |
| Focal neurological deficits | Motor weakness, sensory loss, aphasia, visual field defects corresponding to affected brain regions |
| Cognitive impairment | Memory loss, executive dysfunction, reduced processing speed (especially with frontal or temporal involvement) |
| Seizures | Common when cortical tissue is involved; may be focal or generalized |
| Spasticity and contractures | Develop in affected limbs over time |
| Hydrocephalus ex vacuo | Ventricular enlargement due to loss of surrounding brain tissue (not communicating hydrocephalus per se) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |