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…Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…Functional and Biomechanical characterization through the progression of Parkinson’s Disease
Objective: To describe clinical, electromyographic, and gait kinematic parameters throughout Parkinson’s disease (PD) progression Background: PD is the second most prevalent neurodegenerative disease worldwide. Classic…Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series
Objective: The Powassan virus is a rare neurotropic, tick-borne arbovirus associated with meningoencephalitis. Despite the virus’s known predilection for the basal ganglia, there are no…Study Of Epidemiological and Clinical Profile of Neurologic Wilson’s Disease from a Tertiary Care Hospital In India
Objective: To study the epidemiological profile of neurologic Wilson’s disease (WD) and to study clinical, biochemical and radiological features of neurologic WD Background: Wilson’s disease…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…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…Clinical Characteristics and Antipsychotic Medication Use in Pediatric Population Diagnosed With Tourette Syndrome
Objective: To assess the clinical characteristics and rate of antipsychotic medication discontinuation in a pediatric cohort diagnosed with Tourette syndrome (TS). Background: It is estimated…Stereotypy and other Movement Disorders Following Osmotic Demyelinating Syndrome: a case report
Objective: This paper aims to present a case of stereotypy as a unique manifestation of ODS in a Filipino adult female, along with the co-occurrence…
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