Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA
Objective: We describe a patient who presented to our movement disorder center for unilateral dystonic spells which last seconds and triggered by sudden movements. Genetic…Efficacy of perampanel in paroxysmal kinesigenic dyskinesia
Objective: To explore the efficacy and safety of perampanel in the treatment of paroxysmal kinesigenic dyskinesia (PKD) Background: Perampanel is a new type of antiepileptic…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…