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Title: ILAE Genetic Literacy Series: familial focal epilepsy syndromes.
Austin Authors: Gooley, Samuel;Crompton, Douglas E;Berkovic, Samuel F 
Affiliation: Department of Neurology, Northern Health, Epping, Victoria 3076, Australia
Epilepsy Research Centre
Issue Date: 8-Dec-2021
Date: 2021-12-08
Publication information: Epileptic Disorders 2021; online first: 8 December
Abstract: There are a number of familial focal epilepsy syndromes, each with distinct clinical characteristics. Here, we review the epilepsy phenotypes and the genetic architecture of these syndromes. Using an illustrative clinical case, we describe the important steps in making a diagnosis and ordering appropriate genetic tests. Our discussion on the genetics of the familial focal epilepsies will provide a framework for interpreting the results of genetic testing, and allow us to apply this information to patient management.
DOI: 10.1684/epd.2021.1393
Journal: Epileptic Disorders
PubMed URL: 34887240
Type: Journal Article
Subjects: DEPDC5
familial focal epilepsy
focal epilepsy genetics
Appears in Collections:Journal articles

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