Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement
disorder and is often misdiagnosed clinically as epilepsy. Using whole-exome sequencing …

Objective: The proline-rich transmembrane protein (PRRT2) gene was recently identified
using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic …

Background Paroxysmal dyskinesias (PDs), a clinically and genetically heterogeneous
group of episodic movement disorders, include kinesigenic PD (PKD), exercise-induced PD …

Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by
recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary …

Objective: Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by
recurrent attacks of hyperkinetic movements. PKD can be isolated or associated with benign …

Recent studies reported mutations in the gene encoding the proline-rich transmembrane
protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD …

Heterozygous mutations of PRRT2, which encodes proline‐rich transmembrane protein 2,
are associated with heterogeneous phenotypes including benign familial infantile seizures …

Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with
paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological …

Objective: To describe the phenotypes and penetrance of paroxysmal kinesigenic
dyskinesia (PKD), a movement disorder characterized by attacks of involuntary movements …

Next-generation sequencing has identified mutations in the PRRT2 (proline-rich
transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum …