PRRT2 (proline rich transmembrane protein 2) is a presynaptic membrane protein that plays a critical role in neurotransmitter release and synaptic transmission regulation 1. As a component involved in synaptic vesicle function, PRRT2 regulates calcium-sensing in presynaptic terminals and modulates SNARE complex formation, thereby controlling short-term synaptic facilitation 1. The protein is essential for proper neuronal communication, particularly in the control of movement and seizure susceptibility. PRRT2 mutations are the leading genetic cause of paroxysmal kinesigenic dyskinesia (PKD), accounting for the majority of cases worldwide with autosomal dominant inheritance and incomplete penetrance 2. PKD is characterized by recurrent, transient episodes of involuntary movements triggered by sudden voluntary actions 32. PRRT2 is also associated with benign familial infantile seizures and represents the most common single-gene epilepsy, with an estimated incidence of 1 per 9,970 live births 1. Notably, 85.7% of PRRT2 variants are inherited rather than de novo 4. The high frequency of PRRT2 mutations in genetic testing panels highlights its clinical significance, making it a priority target for molecular diagnostic testing in patients with early-onset epilepsy and movement disorders 41.