Clinical Research Directory

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative\'s goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.

Connectomic Guided DBS for Parkinson's Disease

The objective of this research is to use advanced connectomic imaging models to identify disease-relevant axonal pathway targets for better tremor control in Parkinson's disease patients while avoiding undesirable side effects, with the goal of increasing precision and facilitating the choice of optimal DBS parameters for certain disease phenotypes. The investigators hypothesize that patient centered subthalamic nucleus deep brain stimulation of cerebellothalamic axonal pathways and pallidothalamic tract activation can provide better tremor control while avoiding worsening dyskinesias in patients with Parkinson's disease with significant tremor.

Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia

This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.

Reliability and Validity Study of the Turkish Version of the Parkinson's Disease Dyskinesia Scale (PDYS-26)

The aim of this methodological study was to investigate the Turkish validity and reliability of the Parkinson's Disease Dyskinesia Scale (PDYS-26).The scale evaluates choreic dyskinesia.Measures the impact of dyskinesia on activities of daily living in patients with Parkinson's disease. Hypotheses of the Study: * Parkinson's Disease Dyskinesia Scale (PDYS-26) is reliable in Turkish. * Parkinson's Disease Dyskinesia Scale (PDYS-26) is valid in Turkish. To determine the validity of dyskinesia; * Tampa Kinesiophobia Scale, * Mini BesTest, * Activity Specific Balance Safety Scale (ABC) and * Parkinson's Disease Questionnaire-39 will be evaluated.

Registry and Natural History of Epilepsy-Dyskinesia Syndromes

The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.