Sodium channel dysfunction in neurodevelopmental disorders

Speaker: Kevin Bender, Ph.D.
Affiliation: Associate Professor of Neurology, University of California, San Francisco

Date: February 26, 2020

Talk title: Sodium channel dysfunction in neurodevelopmental disorders

Abstract: De novo mutations in the gene SCN2A are associated with a range of neurodevelopmental disorders, including epilepsy, autism spectrum disorder (ASD) and intellectual disability. Interestingly, these different disorders are often associated with different effects on SCN2A function, with gain of function variants most commonly associated with epilepsy and loss of function variants most commonly associated with ASD and intellectual disability. Our lab has been interested primarily in understanding how loss of function variation in SCN2A affects the nervous system and understanding whether therapeutics can be developed to treat such disorders.