Emerging Monogenic Complex Hyperkinetic Disorders

Miryam Carecchio, Niccolò E. Mencacci*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations


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 dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. The delineation of the phenotypic spectrum associated with mutations in ATP1A3, FOXG1, GNAO1, GRIN1, FRRS1L, and TBC1D24 is revealing an expanding genetic overlap between epileptic encephalopathies, developmental delay/intellectual disability, and hyperkinetic movement disorders,. Summary: Thanks to NGS, the etiology of several complex hyperkinetic movement disorders has been elucidated. Importantly, NGS is changing the way clinicians diagnose these complex conditions. Shared molecular pathways, involved in early stages of brain development and normal synaptic transmission, underlie basal ganglia dysfunction, epilepsy, and other neurodevelopmental disorders.

Original languageEnglish (US)
Article number97
JournalCurrent neurology and neuroscience reports
Issue number12
StatePublished - Dec 1 2017


  • Epilepsy
  • Genetics
  • Hyperkinetic
  • Movement disorders
  • Next-generation sequencing

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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