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Review

Human Epilepsy Gene Discovery: The Next Decade

Emily S. Bonkowski, Heather C. Mefford
Jeffrey L. Noebels  1 , Massimo Avoli  2 , Michael A. Rogawski  3 , Annamaria Vezzani  4 , Antonio V. Delgado-Escueta  5
, editors.
In: Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 41.
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Review

Human Epilepsy Gene Discovery: The Next Decade

Emily S. Bonkowski et al.
Free Books & Documents

Excerpt

The application of genome-wide technologies has accelerated the discovery of genetic and genomic etiologies for the epilepsies. Gene discovery has been most successful in the developmental and epileptic encephalopathies, and genetic testing is now routinely implemented in the clinical setting. Yet a significant percentage of affected individuals remain undiagnosed, and identifying the genetic underpinnings of generalized and focal epilepsies has lagged. Emerging technologies and analysis approaches offer promise for continued discovery of disease-associated variation. Examples include long-read sequencing, genome-wide methylation studies, and development and application of polygenic risk estimates.

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References

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