The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Objective: To better delineate the genetic landscape and key clinical characteristics that define complex early onset monogenic hyperkinetic movement disorders (HMD). Background: Hyperkinetic movement disorders…High amplitude jerky tremor in developmental dopamine deficiency
Objective: To describe the phenomenology of tremor in infantile parkinsonism due to dopamine deficiency. Background: Parkinsonism in childhood is usually caused by genetic abnormality, including…VIT-D and Tics Movement Disorder
Objective: Tics is common childhood movement disorder, with classified variants , typically begin at around 4-5 years of age but often present lator at about…Novel mutations identified in dopamine transporter deficiency syndrome
Objective: We aim to describe clinical phenotype, genotype and functional studies in a new cohort patients identified with Dopamine Transporter deficiency syndrome (DTDS). Background: Dopamine…