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- Title
ANA Podcasts & Webinars: Genetics of Epilepsy.
- Authors
Das, Rohit R.; Goss, Adeline L.; Scheffer, Ingrid E.
- Abstract
A transformational advance in the field, she says, is the discovery of causative pathogenic variants and mosaic mutations in many individuals.[2] Dr. Scheffer recommends that all epilepsy patients should be considered for genetic testing. Dr. Scheffer emphasizes that genetic testing should be an iterative process: the testing identifies genetic abnormalities that are currently known to be pathological, but this knowledge changes as information about new epilepsy genes is discovered. Understanding the genetics of seizure disorders has transformed our understanding of the pathophysiology of epilepsy.
- Subjects
EPILEPSY; PODCASTING; GENETICS; SEIZURES (Medicine); WEBINARS; DNA copy number variations
- Publication
Annals of Neurology, 2023, Vol 93, Issue 1, p15
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.26546