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ILAE Genetic Literacy Series: familial focal epilepsy syndromes
Samuel Gooley1, Douglas E Crompton1, Samuel F Berkovic2
1Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia, Department of Neurology, Northern Health, Epping, Victoria 3076, Australia.
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.
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