Welcome to the WCN 2021 Interactive Program
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Please note that all sessions will run at their scheduled time and be followed by a LIVE Q&A/Discussion at the end
The viewing of sessions, cannot be accessed from this conference calendar. All sessions are accessible via the Virtual Platform
- Sam Berkovic (Australia)
GENETIC ARCHITECTURE OF THE EPILEPSIES (INCLUDES POLYGENIC RISK SCORES)
- Sam Berkovic (Australia)
GENETICS TRANSFORMING EPILEPSY CARE
- Sarah Weckhuysen (Belgium)
Abstract
Abstract Body
The last decade has seen an increased use and yield of genetic testing in a broad spectrum of epilepsies, especially in the group of the developmental and epileptic encephalopathies. Also adults with epilepsy are now increasingly considered for genetic testing, especially if there is an association with cortical malformations or neurodevelopmental problems. Whereas initial clinical benefits mainly were based on improved counseling about prognosis and recurrence risk, for several genetic epilepsies research discoveries are now being translated into novel treatment strategies including strategies for gene regulation, gene therapy, and anti-seizure medications that obtained orphan drug designations. This presentation will give an overview of how recent developments in genetics have changed our care for (a subset of) epilepsy patients.
NEW FRONTIERS: GERMLINE, MOSAIC AND REPEAT EXPANSION MUTATIONS
- Naomichi Matsumoto (Japan)
Abstract
Abstract Body
Next Generation Sequencing (NGS) technologies drastically changed the genetic analyses for epilepsy-related disorders. Exome sequencing (ES) is now widely accepted for clinical and research-based analysis. The genetic solution rate of ES for genetic diseases in general is approximately 30~40% and even higher in epilepsy-related disorders (~50%). However, it is also true that more than half of analyzed cases still remain unsolved and need further (new) approaches. Even in ES, a new approach focusing on specific regions of genes such as those escaping nonsense mediated mRNA decay could lead to identification of novel genes, like SEMA6B (Am J Hum Genet 2020). Somatic variants should be also kept in mind. We identified a somatic RHOA variant in a novel neuroectodermal disorder associated with epilepsy (Hum Mut 2020). Finally, long-read NGS (with >10 kb sequencing reads) is also very important for analyzing the difficult regions where short-read NGS (with <200 bp sequencing reads) is unable to reach (analyze). Long-read NGS is very powerful in elucidating dynamic and characteristic changes of simple repeat regions which can lead to epilepsy related disorders like BAFME (Brain in press). All these technologies can provide good opportunities to provide the genetic causes and possible therapeutic strategies to unsolved patients with epilepsy-related disorders.