Article
Emerging Monogenic Complex Hyperkinetic Disorders.
Current neurology and neuroscience reports - 30 Oct 2017
Carecchio Miryam, Mencacci Niccolò E
Abstract excerpt
PURPOSE OF REVIEW: Hyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions. RECENT FINDINGS: Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.