Human Epilepsy Gene Discovery
Year: 2024
Type: book-chapter
Abstract: 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.
Authors: Emily S. Bonkowski, Heather C. Mefford
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4401032240