Chicago - 1:00 PM - 2:00 PM
The Center for Autism and Neurodevelopment of Northwestern University Feinberg School of Medicine welcomes you to attend a lecture featuring:
Kevin Bender, PhD
Associate Professor, Department of Neurology
University of California, San Francisco (UCSF)
Join us remotely via BlueJeans
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.
SCN2A encodes the protein NaV1.2, a voltage-gated sodium channel that is expressed throughout the brain, including neocortical excitatory neurons. Using a mouse model heterozygous for Scn2a, we have explored how Scn2a haploinsufficiency affects neocortical circuits. We found that NaV1.2 loss resulted in developmentally distinct deficits in neocortical excitatory neurons.Scn2a haploinsufficiency impaired action potential initiation early in development, whereas a deficit in dendritic excitability persists throughout life. These excitability deficits were associated with impaired excitatory synapses, even when Scn2a is disrupted late in development. These findings suggest that NaV1.2 function is critical throughout life, raising the possibility that restoring normal NaV1.2 function, even later in development, may result in a therapeutic benefit for individuals with ASD-associated SCN2A mutations. Work ongoing in the lab is exploring if and when rescue of Scn2a must occur to achieve therapeutic benefits.
Kevin Bender, PhD is an Associate Professor in the Department of Neurology at the University of California, San Francisco (UCSF). His lab is interested in understanding how neurons encode information, with a particular focus on cellular mechanisms that mediate and modulate neuronal excitability. The Bender lab employs a variety of electrophysiological, optical, and genetic techniques to probe information processing across neuronal compartments, and test how these processes are altered in neurological disorders, including addition and neurodevelopmental disorders.
more
