A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant
Published online on February 09, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
ThePRRT2gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygousPRRT2mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenicPRRT2...
ThePRRT2gene located at 16p11 encodes proline-rich transmembrane protein with the heterozygousPRRT2mutation being commonly reported. The most common variant found was the c.649dup.(Arg217Profs*8). Various case reviews documenting pathogenicPRRT2...