Genetic Testing
Genetic Causes of Rare Epilepsies: What You Need To Know
Individuals may have epilepsy due to genetic, structural, metabolic, immune, or infectious causes. Sometimes the specific cause of an individual’s epilepsy remains unknown. This guide focuses on the genetic causes of epilepsy.
Ruggiero et al., Curr Opin Neurol, 2023
Growing Recognition That Rare Epilepsies are Due to Genetic Causes
Since 2010, rapid advances in genetic testing technology has led to a surge in the discovery of epilepsy-related genes. Currently there are over 1,000 genes known to be linked to epilepsy and new genes continue to be discovered. However, despite these discoveries, there is still much to learn about how genes function and interact with each other, as well as the interactions between genes and the environment .
Ruggiero SM, Xian J, Helbig I. The current landscape of epilepsy genetics: where are we, and where are we going? Curr Opin Neurol. 2023 Apr 1;36(2):86-94.
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Ruggiero SM, Xian J, Helbig I. The current landscape of epilepsy genetics: where are we, and where are we going? Curr Opin Neurol. 2023 Apr 1;36(2):86-94.
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Lal, D. Podcast Episode 03: Clinical Genetic Testing Guidelines for Epilepsies. Youtube. https://www.youtube.com/watch?v=N5Q96Eycf40
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