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Topic: fluorescent in-situ hybridization

ePoster
1 ePoster

In Neuroscience

Unraveling the molecular mechanisms of epilepsy in pediatric patients with tuberous sclerosis complex (TSC)

Frederik Nørby Friis Sørensen, Mirte Scheper, Rasmus Rydbirk, James D. Mills, Irina Korshunova, Eleonora Aronica, Konstantin Khodosevich · FENS Forum 2024

Tuberous sclerosis complex (TSC) is a genetic disorder where many patients affected by the disease suffer from refractive epilepsy. To alleviate related symptoms, the patients must undergo surgery to resect the epileptogenic lesion. Obtaining this tissue and instantly flash freeze it provides a unique opportunity to gain insight to the pathogenesis of TSC.Thus, we embarked on an in-depth unbiased characterization of the transcriptomic landscape, cellular identify, and potential epileptogenic networks of frontal cortical tubers of pediatric TSC using snRNA-seq on resected epileptic tissue and c

ePoster · Neuroscience