TY - JOUR
T1 - The expanding spectrum of movement disorders in genetic epilepsies
AU - Papandreou, Apostolos
AU - Danti, Federica Rachele
AU - Spaull, Robert
AU - Leuzzi, Vincenzo
AU - Mctague, Amy
AU - Kurian, Manju A.
PY - 2020/2/1
Y1 - 2020/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85075737146&partnerID=8YFLogxK
U2 - 10.1111/dmcn.14407
DO - 10.1111/dmcn.14407
M3 - Review article (Academic Journal)
C2 - 31784983
SN - 0012-1622
VL - 62
SP - 178
EP - 191
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
IS - 2
ER -