New research on loss-of-function SCN2A mutations

The following work from Assistant Prof. Kevin Benders lab was presented on the 20th of October in Chicago, at Neuroscience 2019 held by Society for Neuroscience (SFN).

A bit about this meeting – SFN’s 49th annual meeting is the premier venue for neuroscientists to present emerging science, learn from experts, forge collaborations with peers, explore new tools and technologies, and advance careers. More than 30,000 scientists from more than 70 countries at the world’s largest marketplace of ideas and tools for global neuroscience.We are grateful for Dr Bender in sharing his work and his results as he progresses his work across the years. The work presented in this article is previously unpublished and builds any work previously shared.

Recently, Dr Bender shared the following update with SCN2A Australia about his work.

“We are primarily working on the LoF side, studying the effects of full protein truncation in mice that are heterozygous for SCN2A…… The long and short of it is that we have some idea of how brain cells in the neocortex are affected by SCN2A loss, and show that there are some effects that persist throughout life that can be induced at a range of times in development. In other words, SCN2A has important functions throughout life, and losing it at any point in time results in somewhat similar effects as lacking it for ones entire life. This, we are hoping, will help the field in the opposite direction. That is, rescuing SCN2A later in life may be therapeutic. This is an idea that we are investigating now”.

More information on this research can be found in this article from Spectrum.

Neurons from mice missing SCN2A (right) have signal-receiving branches that are less mature than those in controls (left).

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