Molecular & Integrative Seminar: Dr. Yang Yang, Purdue University, "SCN2A related autism and epilepsy: From mouse model to iPSCs model"
- Event Type
- Seminar/Symposium
- Sponsor
- MIP Seminar Committee
- Location
- Charles Miller Auditorium, B102, CLSL
- Date
- Aug 25, 2022 11:00 am
- Speaker
- Yang Yang, PhD.
- Contact
- Julie Moore
- jmoor@illinois.edu
- Views
- 117
- Originating Calendar
- Molecular and Integrative Physiology (MIP) Department Seminar Series
"SCN2A related autism and epilepsy: From mouse model to iPSCs model"
Abstract
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.