Since the first publications linking SCN2A with severe genetic epilepsy, developmental encephalopathy and autism, research has progressed significantly. To help understand the progress made and where research is heading we talk with Prof Ingrid Scheffer who has published many key papers in SCN2A and genetic epilepsies.

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

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

Links: 
Sodium channel gene defects (SCN2A) and seizures – 2002
Channelopathies as causes of genetic epilepsy – 2003
SCN2A mutations in 2 families – 2007
SCN2A Encephalopathy –  2015
Genetic and phenotypic heterogeneity in SCN2A – 2017 (Marcus Wolff)
Gain vs loss of function – 2018

Since the first publications linking SCN2A with severe genetic epilepsy, developmental encephalopathy and autism, research has progressed significantly. To help understand the progress made and where research is heading we talk with Prof Ingrid Scheffer who has published many key papers in SCN2A and genetic epilepsies.
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:&nbsp;
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/pubmed/12243921">Sodium channel gene defects (SCN2A) and seizures</a>&nbsp;&ndash; 2002</li>
<li><a href="https://www.ncbi.nlm.nih.gov/pubmed/12644745">Channelopathies as causes of genetic epilepsy</a> &ndash; 2003</li>
<li><a href="https://www.ncbi.nlm.nih.gov/pubmed/17386050">SCN2A mutations in 2 families</a> &ndash; 2007</li>
<li><a href="https://www.ncbi.nlm.nih.gov/pubmed/26291284">SCN2A Encephalopathy</a>&nbsp;&ndash; &nbsp;2015</li>
<li><a href="https://www.ncbi.nlm.nih.gov/pubmed/28379373">Genetic and phenotypic heterogeneity in SCN2A</a>&nbsp;&ndash; 2017 (Marcus Wolff)</li>
<li><a href="https://www.pnas.org/content/pnas/115/24/E5516.full.pdf">Gain vs loss of function</a> &ndash; 2018</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.

Prof Scheffer discusses SCN2A research and the progress towards treatments.

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