GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Phenotypic Spectrum In Children And Adolescents With Glucose Transporter 1 Deficiency A Multicentric Retrospective Study
Objective: To describe the spectrum of phenotypes in children and adolescents with biochemically and/or genetically proven Glucose Transporter 1 (GLUT1) deficiency. Background: The phenotypes 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…Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…Novel CUX2 Mutation Identified in Patient with Clinical Paroxysmal Nonkinesigenic Dyskinesia
Objective: In this case, we present a novel mutation in the regulatory region for CUX-2 that is associated with clinical PNKD. Background: Paroxysmal nonkinesigenic dyskinesias…Paroxysmal Nonkinesigenic Dyskinesia in GLUT1 Deficiency Syndrome: A Rare Manifestation
Objective: We describe a rare case of paroxysmal nonkinesigenic dyskinesia (PKND) in a patient with GLUT1 deficiency syndrome (GLUT1-DS). Background: Various movement disorders are a…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…Novel presentation of PRRT2 with paroxysmal dystonia and responsive to carbidopa/levodopa.
Objective: Present a novel case of PRRT2 positive PKD presenting with paroxysmal dystonia that responded to treatment with carbidopa levodopa. First report in the literature.…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,…Epidemiological, clinical and paraclinical characteristics of paroxysmal dystonia in multiple sclerosis : A study of Tunisian cohort
Objective: To describe the specificities of paroxysmal dystonia (PD) in a cohort of Tunisian Multiple Sclerosis (MS). Background: Movements disorders are uncommon in multiple sclerosis.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.