ILAE Genetic Literacy Series: familial focal epilepsy syndromes. Issue 2 (7th June 2022)

• Record Type: Journal Article
• Authors: Gooley, Samuel; Crompton, Douglas E.; Berkovic, Samuel F.
• Is Part Of: Epileptic disorders. Volume 24:Issue 2(2022)
• Page Start: 221
• Page End: 228
• Publication Date: 2022-06-07
• Subjects: familial focal epilepsy -- focal epilepsy genetics -- DEPDC5 -- mTOR -- GRIN2A -- LGI1; Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2021.1393
• Languages: English
• ISSNs: 1294-9361

Abstract

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.