CORDIS Project
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The project investigates Dravet Syndrome, a severe epilepsy disorder in children, by mapping disrupted molecular pathways at a single-cell level. It aims to link genetic factors to clinical variability, potentially leading to personalized therapies and reducing stigma associated with the condition.
Dravet Syndrome (DS) is one of the most severe developmental epileptic disorders in children, characterized by spontaneous recurrent seizures, developmental delay, and high risk of premature death.
While approximately 80% of patients carry loss-of-function mutations in the SCN1A gene, clinical outcomes vary significantly, suggesting that other molecular and cellular factors influence disease manifestation.
Although we know this mutation impairs inhibitory neuron function, it remains unclear 1) w…
UNIVERSITAT DE BARCELONA
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