Alternative Medications for Paroxysmal Kinesigenic Dyskinesia
Objective: Report the effectiveness of various medications in the treatment of paroxysmal kinesigenic dyskinesia (PKD). Background: PKD is an episodic movement disorder characterized by attacks…Atypical alternating hemiplegia of childhood in Korea: A case report
Objective: To report an atypical case of alternating hemiplegia of childhood (AHC), which has not yet been reported in Korea. Background: The ATP1A3 gene pathologic…Postural Instability Assessed by Static and Dynamic Posturography in the Early Stage of Parkinson’s Disease
Objective: The early stage of Parkinson’s disease (PD) (Hoehn-Yahr (HY) I-II stages) is characterized by a negative pull test, which clinically excludes postural instability. Previous…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…Stimulus-induced paroxysmal cranial dyskinesia and Nail Patella Syndrome in a multigenerational family with a novel mutation in the LMX1B gene
Objective: To perform a genetic linkage study with the aim to identify the cause of dyskinesia in a large family with affected members in several…Paroxysmal kinesigenic dyskinesia successfully treated with lamotrigine –description of 2 cases
Objective: To present 2 cases of our patients with paroxysmal kinesigenic dyskinesias (PKD) , who had intolerance or ineffectiveness of carbamazepine (CBZ), and presented good…The use of a clinical “exercise -immobility test” in a patient with paroxysmal hypnogenic dyskinesia
Objective: We present a patient of PHD that occurred also after immobility without sleep and its severity increases in days of more exertion. Furthermore, we…Development of a Paroxysmal Movement Disorder Diary for Patients with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To perform qualitative research to develop and establish content validity of a new clinical outcome assessment (COA) instrument for paroxysmal movement disorders in Glut1…Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To identify Clinical Outcome Assessments (COAs) appropriate for the evaluation of paroxysmal movement disorder symptoms and functional impact in Glut1 DS. Background: Glut1 DS…
