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Molecular & Integrative Seminar: Dr. Yang Yang, Purdue University, "SCN2A related autism and epilepsy: From mouse model to iPSCs model"

Event Type
MIP Seminar Committee
Charles Miller Auditorium, B102, CLSL
Aug 25, 2022   11:00 am  
Yang Yang, PhD.
Julie Moore
Originating Calendar
Molecular and Integrative Physiology (MIP) Department Seminar Series

"SCN2A related autism and epilepsy: From mouse model to iPSCs model"

Large-scale human genetic studies have identified Scn2a as one of the leading monogenic causes of autism. Scn2a encodes the voltage-gated sodium channel Nav1.2, a main mediator of neuronal action potential firing. The current paradigm suggests that Nav1.2 gain-of-function variants enhance neuronal excitability, resulting in epilepsy, whereas Nav1.2 deficiency impairs neuronal excitability, contributing to autism. However, this paradigm does not explain why ∼20%–30% of individuals with Nav1.2 deficiency still develop seizures. Here in this talk, I will discuss our recent work using the gene-trap Scn2a deficient mouse model as well as human induced pluripotent stem cells (hiPSCs) carrying Scn2a mutation to understand Scn2a-related autism and epilepsy.  

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