Every month, Developmental Medicine & Child Neurology’s Editor in Chief, Bernard Dan, identifies one key paper as the Editor’s Choice.
The expanding spectrum of movement disorders in genetic epilepsies
Apostolos Papandreou, Federica Rachele Danti, Robert Spaull, Vincenzo Leuzzi, Amy Mctague, Manju A Kurian
Abstract 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.
The full list of previous Editor's Choices can be found here.