SYNGAP1-related intellectual disability with ataxia and late onset of epileptic seizures
Objective: To characterize seizures in a patient with SYNGAP1 mutation and the efficacy of antiepileptic drugs (AEDs). Background: SYNGAP1-related intellectual disability is characterized by developmental…Cognitive pretesting of the Functional Rating Scale 2.0 for Huntington’s disease (FuRST 2.0): An iterative process
Objective: Develop a functional rating scale for Huntington’s disease (HD) using iterative rounds of cognitive pretesting (CPT). Background: We previously reported on focus group and…Bruxism Associated with Restless Limbs Syndrome (RLS): A Dopamine Responsive Movement Disorder
Objective: To investigate a possible association of restless limbs syndrome (RLS) and bruxism and determine if bruxism is improved by dopamine agonists (DAs). Background: Bruxism…New tool to localize seizure onset zone from sEEG signal-connectivity epileptogenicity index
Objective: The main diagnostic challenge of drug resistant epilepsies is to find epileptogenic zone, which will be enough to remove to reach seizure freedom. These…Delayed lesion adverse effects of gamma knife radiosurgical thalamotomy for essential tremor
Objective: To describe a novel case of gamma knife radiosurgical (GKRS) thalamotomy for treatment of refractory essential tremor (ET) with delayed onset adverse effects due…Long-term effect of deep brain stimulation in a monkey model of Parkinson’s disease with L-Dopa–induced dyskinesias
Objective: This study investigated the effect of long-term deep brain stimulation (DBS) of the subthalamic nucleus (STN) on motor behavior in a parkinsonian monkey treated…Reliability and Stability of Programming Directional Deep Brain Stimulation
Objective: To determine the reliability and stability of programming directional deep brain stimulation (d-DBS) systems. Background: Conventional omni-directional deep brain stimulation (o-DBS) of the subthalamic…Use of a new Stimulation Field Visualization Tool in Parkinson’s Disease Subjects Treated with Subthalamic Nucleus Deep Brain Stimulation (sub-analysis from INTREPID RCT)
Objective: To describe the location of stimulation fields as applied to optimized programming parameters in a cohort of STN DBS PD patients participating in INTREPID…Assessment of Real World Effectiveness: A Deep Brain Stimulation Retrospective Outcomes Study
Objective: To report the real-world clinical outcomes of patients utilizing deep brain stimulation (DBS) to manage symptoms of Parkinson's disease, dystonia, and Essential tremor. Background:…Automatic classification of abnormal movement in Huntington’s disease using wearable sensors and machine learning
Objective: To integrate wearable sensors into brief clinical assessments and use machine learning to infer HD disease status and predict UHDRS motor subscores for specific…
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