Expanding the phenotypic spectrum of FGF14 GAA repeat expansion to paroxysmal kinesigenic dyskinesia
Objective: To assess the frequency and pathogenic role of FGF14 GAA repeat expansion in paroxysmal kinesigenic dyskinesia (PKD). Background: FGF14 GAA repeat expansion causes spinocerebellar…Altered Motor Regulation and Limbic-Motor Circuits in Paroxysmal Kinesigenic Dyskinesia
Objective: To explore underlying circuit-level mechanisms in paroxysmal kinesigenic dyskinesia (PKD). Background: While the cortico-striato-thalamo-cortical loop and cerebellum are implicated in PKD pathophysiology, the causal…Multilevel Structure-Function Coupling Reveals Network Signatures of Remission in Paroxysmal Kinesigenic Dyskinesia
Objective: To provide a novel neurobiological framework for understanding and predicting clinical trajectories in PKD. Background: Paroxysmal kinesigenic dyskinesia (PKD) causes brief, movement-triggered dystonic or…Unmasking the Masquerader: Paroxysmal Kinesigenic Dyskinesia (PKD) Misdiagnosed as Epilepsy for Nearly a decade: Time to Act (Consecutive Cohort of 25 patients)
Objective: To characterize the clinical phenotype, diagnostic journey and one year treatment outcomes in paroxysmal kinesigenic dyskinesia (PKD) at a tertiary movement disorder centre in…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,…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.