Dravet syndrome and the influence of the genome: Dr. Sanjay Sisodiya

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. 

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