The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Belen Perez-DuenasKathleen GormanAnna Marcé-GrauJuan D Ortigoza-EscobarAlfons MacayaFederica R DantiKaty BarwickApostolos PapandreouJoanne NgEsther MeyerShekeeb S MohammadMartin SmithFrancesco MuntoniPinki MunotJohanna UusimaaPäivi VieiraEammon SheridanRenzo GuerriniJan CobbenSanem YilmazElisa De GrandisRussell C DaleRoser PonsKathryn J PeallVincenzo LeuzziManju A KurianPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
This study highlights the complex phenotypes observed in children with genetic hyperkinetic movement disorders that can lead to diagnostic difficulty. We provide a comprehensive analysis of motor semiology to guide physicians in the genetic investigation of these patients, to facilitate early diagnosis, precision medicine treatments, and genetic counseling. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.