Development of Gene Panel by Next‐Generation Sequencing Approach for Diagnosis of Paroxysmal Movement Disorders
Objective: To develop a targeted gene panel for Paroxysmal Movement Disorders using Whole Exome Sequencing. Background: Paroxysmal movement disorders (PMDs) are a neurological disorder, characterized…Episodic Rocking Movements in a Young Boy.
Objective: To present a unique case of a 7-year-old boy with episodic rocking and break-dancing movements from the last 3 years Background: Abnormal episodic movements…Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
Objective: The aim is to identify the missing genetic causes of Paroxysmal Kinesigenic Dyskinesia (PKD) Background: Although the group of genes associated with PKD is…A better understanding of Paediatric Paroxysmal Movement Disorders
Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.