Sara Bizzotto
@sarabiz86.bsky.social
460 followers
380 following
7 posts
Group Leader at Imagine Institute | Inserm | Neurogenomics | Somatic mosaicism | Neurodevelopment | Lineage tracing | Developmental disorders | DRN board member
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Reposted by Sara Bizzotto
Sara Bizzotto
@sarabiz86.bsky.social
· Jul 18
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs | PNAS
While it is widely accepted that somatic variants that activate the PI3K-mTOR pathway
are a major cause of drug-resistant focal epilepsy, typically...
www.pnas.org
Reposted by Sara Bizzotto
Reposted by Sara Bizzotto
Reposted by Sara Bizzotto