Clinical Outcomes Of Globus Pallidus Internus Deep Brain Stimulation In ADCY5-Related Dyskinesia: A Case Series From A Tertiary Movement Disorders Center
Objective: To describe the clinical outcomes of globus pallidus internus deep brain stimulation (DBS-GPi) in three patients with genetically confirmed ADCY5 mutation. Background: ADCY5 dyskinesia…Expanding the Phenotypic Spectrum of PRRT2 Channelopathy: A Homozygous Mutation With Early Epilepsy, Autism And Dysmorphism In A Consanguineous Family
Objective: Case Report Background: A child born to third-degree consanguineous parents presented with seizures beginning at 2.5 months of age. Over time, the child developed…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…Genotype-Phenotype Correlations in KCNMA1 Channelopathy: A Comparative Analysis of Gain-of-Function and Loss-of-Function Variants in a Korean Cohort and Literature Review
Objective: The objectives of this study are to delineate the distinct genotype-phenotype correlations between gain-of-function and loss-of-function KCNMA1 variants by analyzing a novel clinical cohort…Homozygous PRRT2 Frameshift Mutation Presenting with Infantile Onset Seizures and Childhood Episodic Ataxia
Objective: To report a rare presentation of a homozygous PRRT2 frameshift mutation manifesting as infantile-onset seizures followed by childhood episodic gait imbalance. Background: PRRT2 mutations…Behavioral Phenotype of a Mouse Model of Mixed Movement Disorders Linked to ADCY5
Objective: To define the motor and non-motor phenotypic features of a novel Adcy5R419W mouse line [1] and validate it as an integrated model of human mixed movement disorders…Simultaneous EEG and Pallidal Local Field Potential Recording in the Diagnosis of Paroxysmal Movements in a Patient with PDE2A Mutation
Objective: To describe the diagnostic value of pallidal local field potentials in distinguishing movement disorder from seizure in a complex phenotype. Background: Sensing-capable deep brain…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…
- 1
- 2
- 3
- 4
- Next Page »