The expanding spectrum of movement disorders in genetic epilepsies

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 rati...

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Published inDevelopmental 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
LanguageEnglish
Published England 01.02.2020
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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. 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
AbstractList 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
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.
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
Author Mctague, Amy
Papandreou, Apostolos
Spaull, Robert
Kurian, Manju A
Leuzzi, Vincenzo
Danti, Federica Rachele
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2017; 39
2017; 38
2017; 32
2018; 378
2016; 87
2016; 86
2014; 59
2014; 9
2014; 7
2014; 55
2001; 98
1986; 315
2015; 15
2010; 75
2015; 17
2015; 5
2015; 16
2015; 19
2015; 3
2017; 26
2017; 25
2015; 96
2015; 11
2016; 53
2017; 173
2018; 60
2016; 59
2016; 58
2016; 57
2019; 142
2014; 113
2015; 23
2017; 91
2009; 32
2017; 17
2014; 164a
2017; 10
2016; 135
2010; 133
2013; 136
2011; 43
2016; 61
2016; 139
2017; 18
2018; 56
2008; 83
2017; 101
2018; 55
2008; 82
2008; 80
2018; 59
2014; 75
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Snippet An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the...
An ever-increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the...
Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are...
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SubjectTerms Epilepsy - diagnosis
Epilepsy - genetics
Epilepsy - physiopathology
Humans
Movement Disorders - diagnosis
Movement Disorders - genetics
Movement Disorders - physiopathology
Title The expanding spectrum of movement disorders in genetic epilepsies
URI https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fdmcn.14407
https://www.ncbi.nlm.nih.gov/pubmed/31784983
https://search.proquest.com/docview/2320383129
Volume 62
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