Complex tuberous sclerosis is a rare disease that typically arises with skin lesions, epilepsy and intellectual disability. Epilepsy in tuberous sclerosis is severe with onset seizures generally in the first months of life, the seizures are drug-resistant. Furthermore, in many cases, intellectual disability and autism spectrum disorders are associated. Tuberous sclerosis is underpinned by mutations in the TSC1 and TSC2 genes that are part of the mTOR pathway.
From a therapeutic point of view, immunosuppressive and antiangiogenic drugs have been shown to be effective in reducing seizures. Furthermore, numerous scientific evidence is in favour of a surgical therapy which consists in identifying the tubers responsible for the seizures and removing them. The mTOR pathway is therefore responsible for this disease as well as for other malformations of cortical development. The aim of the conference is to discuss advanced diagnostic and therapeutic aspects in the treatment of patients with tuberous sclerosis.
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