The expanding spectrum of movement disorders in genetic epilepsies

• Published in: Developmental medicine and child neurology Vol. 62; no. 2; pp. 178 - 191
• Main Authors: Papandreou, Apostolos, Danti, Federica Rachele, Spaull, Robert, Leuzzi, Vincenzo, Mctague, Amy, Kurian, Manju A
• Format: Journal Article
• Language: English
• Published: England 01.02.2020
• Subjects: Epilepsy - diagnosis; Epilepsy - genetics; Epilepsy - physiopathology; Humans; Movement Disorders - diagnosis; Movement Disorders - genetics; Movement Disorders - physiopathology
• ISSN: 0012-1622; 1469-8749
• DOI: 10.1111/dmcn.14407

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. 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. Editor's Choice Technological improvement in genetic diagnosis has radically changed paediatric neurology. We have seen the expansion of the phenotype and understanding of previously known disorders, recognition of novel ones, and the development of new treatments. These changes place a new emphasis on clinical diagnosis. My Editor’s Choice for the February 2020 issue is a much needed narrative review describing the phenotype of a number of genetic conditions presenting with movement disorders and epilepsy. It will help clinicians recognize typical but rarely described presentations, better understand the conditions, and provide them with a rational diagnostic approach in order to improve management