Detailed gene and protein patterns in epilepsy linked to mTOR system

Malformations of cortical development (MCDs) are a major cause of drug-resistant epilepsy (DRE) in children.

• A subset of MCDs, including focal cortical dysplasia type II, tuberous sclerosis complex, and hemimegalencephaly, is associated with specific histopathological features.
• Somatic mutations in genes related to the PI3K-AKT-mTOR signaling pathway may play a role in these conditions.
• The mechanisms behind the development of epilepsy and the occurrence of drug-resistant seizures in these patients are not well understood.

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