ILAE Genetic Literacy Series: familial focal epilepsy syndromes

Samuel Gooley; Douglas E Crompton; Samuel F Berkovic

doi:10.1684/epd.2021.1393

ILAE Genetic Literacy Series: familial focal epilepsy syndromes

Epileptic Disord. 2022 Apr 1;24(2):221-228. doi: 10.1684/epd.2021.1393.

Authors

Samuel Gooley¹, Douglas E Crompton¹, Samuel F Berkovic²

Affiliations

¹ Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia, Department of Neurology, Northern Health, Epping, Victoria 3076, Australia.
² Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.

PMID: 34887240
DOI: 10.1684/epd.2021.1393

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.

Keywords: DEPDC5; GRIN2A; LGI1; familial focal epilepsy; focal epilepsy genetics; mTOR.

Publication types

Review

MeSH terms

Epilepsies, Partial* / diagnosis
Epilepsies, Partial* / genetics
Epilepsy* / genetics
Epileptic Syndromes*
Humans
Literacy
Phenotype