Northwestern Events Calendar


Mechanistic Basis of Genetic Refractory Epilepsies and the Road to Targeted Therapies

When: Friday, April 9, 2021
12:00 PM - 1:00 PM Central

Where: Online

Audience: Faculty/Staff - Student - Post Docs/Docs - Graduate Students

Contact: Donna Daviston   312.503.1687

Group: Department of Physiology Seminars

Category: Lectures & Meetings


The Department of Physiology welcomes Dr. Franck Kalume with University of Washington.


Recent decades have seen dramatic advances in the discovery of the genetic causes of epilepsy.  In this lecture, we will discuss work in the Kalume lab focused on understanding the cellular and network mechanisms underlying seizures and their comorbidities in three debilitating and life-threatening forms of epileptic disorders with distinct genetic etiology. These consist of (1) Dravet syndrome, an epileptic encephalopathy often linked to mutations in the voltage-gated sodium channel gene, SCN1A; (2) focal cortical dysplasia, a brain malformation disorder that is recognized as the most common cause of epilepsy in children and is linked to mutations in PIK3CA, an element of the PI3K-ATK-mTOR signaling pathway; and (3) Leigh syndrome, the most common form of mitochondrial disorder with childhood onset which is associated with mutations in NDUFS4, a gene that codes for a component of mitochondrial protein complex I. Furthermore, we will examine promising emerging mechanism-based therapeutic approaches for these illnesses as well as their similarities and differences.

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