What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular mechanisms underpinning autism? To help answer these questions we talk to A Prof Kevin Bender from UCSF Center for Integrative Neuroscience.

Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.

Leave a review and subscribe via Apple Podcasts. 

You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app.

Links
A Prof Kevin Bender - USCF Center for Integrative Neuroscience
Story on CRISPR Activation research 

What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular mechanisms underpinning autism? To help answer these questions we talk to A Prof Kevin Bender from UCSF Center for Integrative Neuroscience.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
Leave a review and&nbsp;subscribe via&nbsp;<a href="https://podcasts.apple.com/au/podcast/scn2a-insights/id1479681243?mt=2&amp;app=podcast">Apple Podcasts</a>.&nbsp;
You can also find SCN2A Insights on&nbsp;<a href="https://open.spotify.com/show/6KrDEmN7XPh8oDR7zR48cy">Spotify</a>, and&nbsp;<a href="https://podcasts.google.com/?feed=aHR0cHM6Ly93d3cub21ueWNvbnRlbnQuY29tL2QvcGxheWxpc3QvMjNkMTM3YTEtNDQxNi00MGQ2LWE1ZmMtYTUyOTAwMDFlY2RkLzA5MmMwZGNhLWQ0OTgtNDlkYy1hY2RkLWFhNzgwMGI3YWIyZC9jZDc2ZmU4Ni05MTA3LTQxMzYtYmY4Mi1hYTc4MDBiODVmZWQvcG9kY2FzdC5yc3M%3D">Google Podcasts</a>&nbsp;or in your podcast app.
Links
<ul>
<li><a href="https://www.cin.ucsf.edu/HTML/Kevin_Bender.html">A Prof Kevin Bender</a> - USCF Center for Integrative Neuroscience</li>
<li><a href="https://www.spectrumnews.org/news/crispr-therapy-may-reverse-autism-mutations-effects-well-past-infancy/?fbclid=IwAR3uXiwvFYJZuXEdKSqFdzPoboXK8XyvtYLR4O3OZzHomjwplfV7yRgUrj0">Story on CRISPR Activation research</a>&nbsp;</li>
</ul>

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

SCN2A Insights brings you the latest research and clinical information on SCN2A from experts around the world.

SCN2A Insights

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders.

Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders.
Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular mechanisms underpinning autism?

Loss of Function & Autism

Transitioning children with complex health needs such as those with SCN2A or other developmental epileptic encephalopathies is challenging. 

Dr Danielle Andrade from University of Toronto has been instrumental in producing a number of transition guides and her ongoing research hopes to help further improve the process of transition. People aged 18 years or older can participate in this research by contacting Marlene Rong via marlene.rong@uhnresearch.ca

You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. This podcast series is supported by an educational grant from Praxis Precision Medicines.

Links: 
Dr Andrade bio
Dravet syndrome (SCN1A) transition guide
Video on transition research for people aged 18+
To participate in current research contact Marlene Rong via marlene.rong@uhnresearch.ca

Transitioning children with complex health needs such as those with SCN2A or other developmental epileptic encephalopathies is challenging.&nbsp;
Dr Danielle Andrade from University of Toronto has been instrumental in producing a number of transition guides and her ongoing research hopes to help further improve the process of transition. People aged 18 years or older can participate in this research by contacting Marlene Rong via <a href="mailto:marlene.rong@uhnresearch.ca">marlene.rong@uhnresearch.ca</a>
You can listen to and subscribe to the SCN2A Insights podcast via&nbsp;<a href="https://podcasts.apple.com/au/podcast/scn2a-insights/id1479681243?mt=2&amp;app=podcast">Apple Podcasts</a>, &nbsp;<a href="https://open.spotify.com/show/6KrDEmN7XPh8oDR7zR48cy">Spotify</a>, and&nbsp;<a href="https://podcasts.google.com/?feed=aHR0cHM6Ly93d3cub21ueWNvbnRlbnQuY29tL2QvcGxheWxpc3QvMjNkMTM3YTEtNDQxNi00MGQ2LWE1ZmMtYTUyOTAwMDFlY2RkLzA5MmMwZGNhLWQ0OTgtNDlkYy1hY2RkLWFhNzgwMGI3YWIyZC9jZDc2ZmU4Ni05MTA3LTQxMzYtYmY4Mi1hYTc4MDBiODVmZWQvcG9kY2FzdC5yc3M%3D">Google Podcasts</a>&nbsp;or in your podcast app. This podcast series is supported by an educational grant from <a href="https://praxismedicines.com/">Praxis Precision Medicines</a>.
Links:&nbsp;
<ul>
<li><a href="https://www.uhnresearch.ca/researcher/danielle-andrade">Dr Andrade bio</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/pubmed/34624600">Dravet syndrome (SCN1A) transition guide</a></li>
<li><a href="https://www.youtube.com/watch?v=WyhRDePe0Jc">Video on transition research for people aged 18+</a></li>
<li>To participate in current research contact Marlene Rong via <a href="mailto:marlene.rong@uhnresearch.ca">marlene.rong@uhnresearch.ca</a></li>
</ul>

Transitioning children with complex health needs such as those with SCN2A or other developmental epileptic encephalopathies is challenging.   Dr Danielle Andrade from University of Toronto has been instrumental in producing a number of guides to the transition process and her ongoing research hopes to help further improve the process of transition.

Transition

Advocating for people with epilepsy and increasing epilepsy awareness are passions for Torie Robinson, founder and CEO of Epilepsy Sparks. 

Torie's lived experience and experience as an advocate and spokesperson gives her great insights in to care needs for people with epilepsy. In this insightful and personal conversation, Kris and Torie talk about the work they do, how they are trying to bridge the gaps in care, and provide tips for parents and carers of those with DEEs.

You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app.

Links: 
Torie Robinson
Epilepsy Sparks
Podcast - Epilepsy Sparks Insights
YouTube channel

Advocating for people with epilepsy and increasing epilepsy awareness are passions for Torie Robinson, founder and CEO of Epilepsy Sparks.&nbsp;
Torie's lived experience and experience as an advocate and spokesperson gives her great insights in to care needs for people with epilepsy. In this insightful and personal conversation, Kris and Torie talk about the work they do, how they are trying to bridge the gaps in care, and provide tips for parents and carers of those with DEEs.
You can listen to and subscribe to the SCN2A Insights podcast via&nbsp;<a href="https://podcasts.apple.com/au/podcast/scn2a-insights/id1479681243?mt=2&amp;app=podcast">Apple Podcasts</a>, &nbsp;<a href="https://open.spotify.com/show/6KrDEmN7XPh8oDR7zR48cy">Spotify</a>, and&nbsp;<a href="https://podcasts.google.com/?feed=aHR0cHM6Ly93d3cub21ueWNvbnRlbnQuY29tL2QvcGxheWxpc3QvMjNkMTM3YTEtNDQxNi00MGQ2LWE1ZmMtYTUyOTAwMDFlY2RkLzA5MmMwZGNhLWQ0OTgtNDlkYy1hY2RkLWFhNzgwMGI3YWIyZC9jZDc2ZmU4Ni05MTA3LTQxMzYtYmY4Mi1hYTc4MDBiODVmZWQvcG9kY2FzdC5yc3M%3D">Google Podcasts</a>&nbsp;or in your podcast app.
Links:&nbsp;
<ul>
<li><a href="https://www.torierobinson.com/">Torie Robinson</a></li>
<li><a href="https://www.epilepsysparks.com/">Epilepsy Sparks</a></li>
<li><a href="https://www.torierobinson.com/podcast">Podcast - Epilepsy Sparks Insights</a></li>
<li><a href="https://www.youtube.com/c/TorieRobinson">YouTube channel</a></li>
</ul>

Torie Robinson's lived experience makes her a powerful advocate for improving care for those with epilepsy.

Living With Epilepsy

Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures. 

To help understand what outcome measures are and why they are important to spoke to Dr Jenny Downs, Program Head of Disability Research at the Telethon Kids Institute in Perth. 

You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app.

Links: 
Information on Quality of Life Inventory-Disability (QI-Disability)
Validation study of QI-Disability
Want to help developing quality of life measures for children with genetic epilepsy?

Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures.&nbsp;
To help understand what outcome measures are and why they are important to spoke to Dr Jenny Downs, Program Head of Disability Research at the Telethon Kids Institute in Perth.&nbsp;
You can listen to and subscribe to the SCN2A Insights podcast via&nbsp;<a href="https://podcasts.apple.com/au/podcast/scn2a-insights/id1479681243?mt=2&amp;app=podcast">Apple Podcasts</a>, &nbsp;<a href="https://open.spotify.com/show/6KrDEmN7XPh8oDR7zR48cy">Spotify</a>, and&nbsp;<a href="https://podcasts.google.com/?feed=aHR0cHM6Ly93d3cub21ueWNvbnRlbnQuY29tL2QvcGxheWxpc3QvMjNkMTM3YTEtNDQxNi00MGQ2LWE1ZmMtYTUyOTAwMDFlY2RkLzA5MmMwZGNhLWQ0OTgtNDlkYy1hY2RkLWFhNzgwMGI3YWIyZC9jZDc2ZmU4Ni05MTA3LTQxMzYtYmY4Mi1hYTc4MDBiODVmZWQvcG9kY2FzdC5yc3M%3D">Google Podcasts</a>&nbsp;or in your podcast app.
Links:&nbsp;
<ul>
<li><a href="https://www.telethonkids.org.au/our-research/brain-and-behaviour/disability/child-disability/qi-disability/">Information on Quality of Life Inventory-Disability (QI-Disability)</a></li>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/30460513/">Validation study of QI-Disability</a></li>
<li><a href="https://scn2aaustralia.org/wp-content/uploads/2021/03/QoL-study.pdf">Want to help developing quality of life measures for children with genetic epilepsy?</a></li>
</ul>

Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures.

Loss of Function & Autism

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