The expanding spectrum of movement disorders in genetic epilepsies

Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy Mctague, Manju A. Kurian*

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)peer-review

31 Citations (Scopus)


An ever-increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy-dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease-specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds: Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

Original languageEnglish
Pages (from-to)178-191
Number of pages14
JournalDevelopmental Medicine and Child Neurology
Issue number2
Early online date29 Nov 2019
Publication statusPublished - 1 Feb 2020


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