Approach to MTORopathies

Topic: Approach to MTORopathies.

Talk By: Dr. Manar Alotaibi (Speaker), Dr. Sonali Singh (Speaker), Dr. Robyn Whitney (Expert Faculty), and Dr. Ozlem Ersoy (Moderator).

When: Friday, June 14, 2024, at 9:00 - 10:00 AM Eastern Time ( US / Canada ) .

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Dr. Manar Alotaibi completed an MBBS and MD (Pediatric Neurology) from King Fahad Specialized Hospital, Dammam (Saudi Arabia). She is currently an Epilepsy Fellow at the Hospital for Sick Children (SickKids) University of Toronto, Toronto, Ontario, Canada. She has a special interest in epilepsy genetics and epilepsy surgery.

Dr. Sonali Singh is trained in India and completed her pediatric Neurology training (DM) from AIIMS, New Delhi (India). She worked as a consultant for two years, and currently, she is pursuing a fellowship in Epilepsy Fellow at The Hospital for Sick Children (SickKids) in Toronto, Ontario, Canada. She is currently studying the outcome of VNS in children with monogenic DRE.

Dr. Ozlem Ersoy has graduated from Yeditepe University Faculty of Medicine in Istanbul, Turkey, and finished her Pediatrics residency in Haseki Training and Research Hospital in İstanbul. She worked as a pediatrician for almost 5 years, mostly in the neonatal intensive care unit. Then finished pediatric neurology fellowship from the Mersin University Faculty of Medicine in Mersin. She is now working at Mersin City Training and Research Hospital as a pediatric neurology consultant.

Dr. Robyn Whitney is a Pediatric Neurologist and Epileptologist at McMaster University. She is an Assistant Professor in the Department of Pediatrics at McMaster University. She completed her Epilepsy Fellowship at the Hospital for Sick Children. Her clinical interests are epilepsy genetics, epilepsy surgery, developmental and epileptic encephalopathies, and Tuberous Sclerosis Complex. She developed the first multidisciplinary Tuberous Sclerosis Clinic at McMaster University. Her research interests are in epilepsy genetics, sudden unexpected death in epilepsy and Tuberous Sclerosis Complex. Dr. Whitney has an interest in medical education and is one of the hub leads for Project ECHO: Epilepsy Across the Lifespan. She sits on the International League Against Epilepsy (ILAE) terminology and epilepsy syndrome Task Force. She also sits on the KCNT1 medical advisory board and she is the incoming Program Director of the Canadian Epilepsy Teaching Network. She is a member of the PAME conference organizing committee. She has over 75 peer-reviewed publications.

About the session: Overactivation of the mTOR pathway can result in epilepsy and an array of neurodevelopmental disorders. There may be “brain-only” involvement or more multisystemic involvement. In this session, we will review the common MTORopathies (non-TSC), their clinical presentation, and genetics. Challenges in the diagnosis and treatment of MTORopathies will also be discussed.

By attending this session, you will be able to learn the following points:

• Review the concept of mTORopathies and the mTOR pathway.
• Review the common genetic etiologies of mTORopathies with a focus on the GATOR1 complex.
• Understand the contribution of somatic mutations to cortical malformations.
• Review the clinical presentation of mTORopathies.
• Review opportunities for precision medicine with mTORopathies.

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