Neuropathic mechanism of paroxysmal kinesigenic dyskinesia based on EEG
Objective: To disclose the neural mechanism of paroxysmal kinesigenic dyskinesia (PKD) based on the findings from high-density electroencephalogram (hd-EEG) and to explore a neural biomarker for…Paroxysmal Musician’s Dyskinesia
Objective: To report a case of tics associated with paroxysmal kinesigenic dyskinesia in a patient with PRRT2 mutation. Background: Paroxysmal kinesigenic dyskinesia (PKD) is characterized…Brain structure alternations and disrupted functional connectivity in paroxysmal kinesigenic dyskinesia
Objective: This study aimed to delineate the morphological and functional alterations of paroxysmal kinesigenic dyskinesia (PKD) by functional magnetic resonance imaging (fMRI). Background: PKD is…Alternative Medications for Paroxysmal Kinesigenic Dyskinesia
Objective: Report the effectiveness of various medications in the treatment of paroxysmal kinesigenic dyskinesia (PKD). Background: PKD is an episodic movement disorder characterized by attacks…Paroxysmal Kinesigenic Dyskinesia: Case series from Çukurova University, Turkey
Objective: To present the demographic, clinical and genetic data of ten patients with paroxysmal kinesigenic dyskinesia (PKD). Background: PKD is a rare movement disorder triggered…Correlations between genetics and cortical dysfunction of paroxysmal kinesgenic dyskinesia
Objective: To delineate the cortical function of paroxysmal kinesigenic dyskinesia (PKD) and correlate with the genotypes of patients. Background: PKD is characterized by episodic involuntary movements…Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…PRRT2 mutations are associated with a wide intrafamilial ad interfamilial phenotypic variability
Objective: To describe the different clinical syndromes associated with PRRT2 mutations in two different families Background: Mutations in the Proline-Rich Transmembrane Protein 2 (PRRT2) gene…Large Sample Study on Paroxysmal Kinesigenic Dyskinesia: Genotype-Phenotype Analysis and Diagnosis Recommendations
Objective: By analyzing nationwide large samples provided by China Paroxysmal Kinesigenic Dyskinesia Association(CPKDA), this study is attempted to summarize the clinical phenotypes and genetic features…A Swedish family with Paroxysmal Kinesigenic Dyskinesia due to p.Arg217Profs*8 truncation in the proline-rich transmembrane protein 2 gene
Objective: To describe the first Swedish pedigree that fits both clinical criteria for PKD and genetic confirmation for the p.Arg217Profs*8 in the PRRT2 gene. Background: Paroxysmal Kinesigenic…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.