Autosomal Dominant DHDDS-Related Movement Disorder Treated with Primidone
Objective: To describe novel clinical features and treatment response in a patient with neurodevelopmental disorder due to variants in dehydrodolichol diphosphate synthetase (DHDDS). Background: DHDDS…The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
Objective: Mutations in the GOSR2 gene are associated with North Sea-Progressive Myoclonus Epilepsy (NS-PME). Because more recently additional phenotypes have been described we systematically reviewed…Phenotypical Study of Progressive Myoclonic Epilepsy in Eastern Algeria
Objective: We aim to analyze phenotypical features of individuals from eastern Algeria having a PME phenotype followed in our center (Dr Benbadis University Hospital). Background:…Interpretable Video Analysis for Movement Disorders, A Case Study of Essential Tremor vs. Cortical Myoclonus
Objective: To demonstrate the feasibility of data-driven models for discovering interpretable movement features relevant to Essential Tremor (ET) vs Cortical Myoclonus (CM) diagnosis using video.…Beyond “benign”, tremor and epilepsy in FAME3-A New Family Report with Progressive Course and Cognitive Impairment
Objective: To report a family with Familial Cortical Myoclonic Tremor with Epilepsy(FAME) type 3 diagnosed through long-read sequencing and presenting a progressive disease course and…‘If you can’t beat them, join them’: a patient and family perspective on quality of life with North Sea progressive myoclonus epilepsy
Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME). Background: NS-PME is…The Next Move in Movement Disorders: Differentiating between Hyperkinetic Movement Disorders using [18F] FDG PET
Objective: Understanding the differences in brain glucose metabolism between hyperkinetic movement disorders. Background: The Next Move in Movement Disorders (NEMO) study is a research initiative…Deep Brain Stimulation for Post-Hypoxic Myoclonus: A Case Correlating Local Field Potentials to Clinical Outcome
Objective: To correlate local filed potential (LFP) spectral data with clinical improvement of the Unified Myoclonus Rating Scale (UMRS) in post-hypoxic myoclonus (PHM) syndrome treated…Treatment of Post-hypoxic Myoclonus using Bilateral Subthalamic Nuclei Deep Brain Stimulation
Objective: We report the first known case of a patient with refractory post-hypoxic myoclonus (PHM) and focal epilepsy implanted with bilateral subthalamic nuclei (STN) deep…Cortical myoclonus in DHDDS: the multifaced presentation of a single movement disorder
Objective: To characterize the myoclonus spectrum and related clinical burden in patients with autosomal dominant DHDDS deficiency. Background: DHDDS deficiency is a neurometabolic disorder associated…
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