| Prevalence | Rare, estimated 1-2 per 100,000 for most forms |
| Age of onset | Varies by subtype; typically childhood or adolescence |
| Geographic clusters | Higher incidence of Unverricht-Lundborg in Finland and Mediterranean regions |
| Lafora disease | Mutations in EPM2A (laforin) or NHLRC1 (malin) lead to abnormal glycogen metabolism[@singh2014] |
| Abnormal glycogen accumulation | Progressive intracellular glycogen accumulation in neurons, astrocytes, and peripheral tissues |
| Lafora bodies | Abnormal glycogen inclusions that disrupt cellular function[@turnbull2011] |
| Protein aggregation | Similar mechanisms to other protein aggregation disorders (Alzheimer's, Parkinson's) |
| ER stress | Endoplasmic reticulum stress response activation |
| Oxidative stress | Increased reactive oxygen species and mitochondrial dysfunction |
| Glutamate dysregulation | Altered excitatory neurotransmission |
| Ion channel dysfunction | Mutations affecting sodium and calcium channels |
| Impaired GABAergic inhibition | Reduced inhibitory control contributing to seizures |
| Databases | OMIMOrphanetClinicalTrialsPubMed |