Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

摘要

Paroxysmal kinesigenic dyskinesia (PKD) is a rare paroxysmal movement disorder characterized by involuntary movements triggered by sudden voluntary movements. PKD is a genetic disorder due to de novo mutations or autosomal dominant pedigree inheritance. Genetic linkage studies have generally localized the dominant gene to the pericentromic region of chromosome 16 (16p11-q21).Despite extensive searching, including mutation analysis of 157 genes in this region, the PKD gene remains unidentified.