Classification of Tremor and Myoclonus: An Explainable Machine Learning Approach
Objective: Providing a proof of concept for the classification of movement disorders using explainable machine learning applied to power spectra derived from accelerometry recordings. Background:…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…‘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…When Jerks and Stumbles Become More Than Just Clumsiness
Objective: To describe a case of a girl with progressive seizures, imbalance and regression due to a rare disorder and discuss the approach to the…Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene
Objective: This study aims to explore the pathogenic mechanisms of familial cortical myoclonic tremor with epilepsy (FCMTE) using various cellular models, from the perspectives of…Tremor characteristics in patients with chronic inflammatory demyelinating polyneuropathy
Objective: To describe tremor characteristics in patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). Background: Tremor is an underrecognized symptom of CIDP. There is limited data…