Dravet syndrome is a rare, severe epilepsy caused by changes in a gene called SCN1A. The changes cause the gene to stop functioning normally. But not everyone with this type of genetic change develops Dravet syndrome, and people with Dravet also have a wide range of clinical characteristics, which can't be fully explained by these changes. What else is going on? We spoke with Dr. Sanjay Sisodiya about a recent publication on genomic influences in Dravet syndrome.
This episode is based on a recent publication in the journal Brain:
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Dravet syndrome is a rare severe epilepsy typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, Dravet syndrome also has phenotypic heterogeneity, which cannot be explained by clinical factors or SCN1A variants.
This relatively small study (34 adults) found that additional genomic variation contributes to the diversity of phenotypes found in Dravet syndromes. The authors suggest that the SCN1A variant may need to act against a "broadly compromised genomic background" to generate the full Dravet syndrome phenotype, and that genomic resilience may contribute to a reduction in mortality risk among adults with Dravet syndrome.
The 2024 e-forum series from ILAE starts June 10th with a session on outcomes beyond seizures in the childhood onset epilepsies. The forum feature several experts, examining the topic in detail with live Q&A sessions and key learning points. Registrants also get access to relevant research papers and a self-paced virtual course to consolidate their learning. Visit ilae.org/congresses and click on the webinar tab to see more information and register.
Sharp Waves episodes are meant for informational purposes only, and not as clinical or medical advice.
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The International League Against Epilepsy is the world's preeminent association of health professionals and scientists, working toward a world where no person's life is limited by epilepsy. Visit us on Facebook, X (Twitter), Instagram, and LinkedIn.
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