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IEC 2021 | Mechanisms of mTOR-induced epilepsy

Lena Nguyen, PhD, Yale School of Medicine, New Haven, CT, discusses what is currently known about the mechanisms of mTOR-induced epilepsy. The mTOR pathway is involved in several cellular processes required in the growth, metabolism, and structure of neurons and glia. Hyperactivation of mTOR signaling during fetal neurodevelopment alters neuron structure and function, which leads to focal malformation of cortical development and drug-resistant epilepsy. Current research focuses on better understanding the underlying mechanisms and developing better treatments for this patient population. This interview took place during the 34th International Epilepsy Congress, 2021.

Transcript (edited for clarity)

Our work and what I’ll be presenting focuses on a type of pediatric epilepsy that is associated with malformation of cortical development. And these disorders include tuberous sclerosis complex, focal cortical dysplasia, and hemimegalencephaly among others. And these disorders are characterized by a focal malformation of the cerebral cortex that occured due to what we now know are genetic mutations that causes the fetus brain to develop abnormally during pregnancy...

Our work and what I’ll be presenting focuses on a type of pediatric epilepsy that is associated with malformation of cortical development. And these disorders include tuberous sclerosis complex, focal cortical dysplasia, and hemimegalencephaly among others. And these disorders are characterized by a focal malformation of the cerebral cortex that occured due to what we now know are genetic mutations that causes the fetus brain to develop abnormally during pregnancy. And so typically these infants or children have epilepsy that is severe and very difficult to treat with antiepileptic drugs. And the other alternative is often surgery to remove the abnormal brain region.

And so the focus of current research is to better understand the underlying problems and to develop better treatments for this type of epilepsy. And within the past 50 years or so, we know that a key cell signaling pathway, known as the mTOR pathway, is over-activated in the brains of these patients. And so this is a pathway that is important for growth and development. And when this pathway is over-activated during the development of the brain, it causes alterations in neuron development and function, which leads to epilepsy and malformations of the brain.

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