Professionals

Pathogenic variants in PRRT2, encoding for the proline-rich transmembrane protein, are identified as the leading genetic cause of self-limiting sporadic and familial infantile epilepsy (BFIS) and paroxysmal kinesigenic dyskinesia (PKD). The exact prevalence of PRRT2-related disorders varies but is considered relatively rare. PKD has been reported in various populations, with estimates suggesting it affects approximately 1 in 100,000 individuals.