CORDIS Project
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This project investigates focal cortical dysplasia type 2, a genetic brain malformation linked to epilepsy. It aims to identify genetic variants and biomarkers related to the mTOR pathway and neuronal hyperexcitability using advanced genomic techniques and human brain organoids.
Focal cortical dysplasia (FCD) is a rare, genetic, non-syndromic developmental malformation of the cerebral cortex that accounts for 5-10% of patients with focal epilepsy. FCD represents the main cause of pharmacologically intractable epilepsy, the only treatment available consisting of invasive surgical resection of the epileptogenic zone, which results effective in only 62% of patients.
Thus, a better understanding of this disorder is necessary to develop more effective and less invasive treat…
INSTITUT DU CERVEAU ET DE LA MOELLE EPINIERE
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