Epileptic Disorders


ILAE Genetic Literacy Series: familial focal epilepsy syndromes Volume 24, issue 2, April 2022


Samuel F. Berkovic on behalf of the ILAE Genetics Literacy Taskforce* 1 *
1 Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia
2 Department of Neurology, Northern Health, Epping, Victoria 3076, Australia
* Correspondence: Samuel F. Berkovic Epilepsy Research Centre, Level 2, Melbourne Brain Centre, 245 Burgundy St. Heidelberg, Victoria 3084, Australia
* Full list of Genetics Literacy Taskforce members:Helen Cross, UCL-Institute of Child Health, Great Ormond Street Hospital for Children, London & Young Epilepsy, Lingfield, UKPeter De Jonghe, Neurogenetics Group, Department of Molecular Genetics, VIB, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, and Division of Neurology, Antwerp University Hospital, Antwerp, BelgiumIngo Helbig, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA and Department of Neuropediatrics, University Medical Centre Schleswig-Holstein, Christian-Albrechts-University, Kiel, GermanyYuwu Jiang, Department of Pediatrics, Peking University First Hospital, Beijing, ChinaDaniel H Lowenstein, Department of Neurology, University of California, San Francisco, USANigel CK Tan, Department of Neurology, National Neuroscience Institute, Singapore, Singapore

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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