Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer.

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

Leave a review and subscribe via Apple Podcasts. 

Links: 
Australian Genomics Health Alliance - genomics info
Human Disease Genes - website series
Rare chromosomes and gene disorders (Unique)
Paediatric Epilepsy Network NSW (PENNSW) - epilepsy information for families and clinicians
Talk at Genetic Epilepsy conference (GETA 2019) - video
 Parental mosaicism in 'de novo' epileptic encephalopathies - journal article

Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer.
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;
Links:&nbsp;
<ul>
<li><a href="https://www.genomicsinfo.org.au/">Australian Genomics Health Alliance</a>&nbsp;- genomics info</li>
<li><a href="https://humandiseasegenes.nl/">Human Disease Genes</a>&nbsp;- website series</li>
<li><a href="https://www.rarechromo.org/">Rare chromosomes and gene disorders (Unique)</a></li>
<li><a href="http://pennsw.com.au/">Paediatric Epilepsy Network NSW (PENNSW)</a>&nbsp;- epilepsy information for families and clinicians</li>
<li><a href="https://www.geneticepilepsyteam.com.au/conference-2019/speakers/palmer/" aria-label=" (opens in a new tab)">Talk at Genetic Epilepsy conference (GETA 2019)</a>&nbsp;- video</li>
<li>&nbsp;<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966016/pdf/nihms966100.pdf">Parental mosaicism in 'de novo' epileptic encephalopathies</a>&nbsp;- journal article</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.

Genetic testing is complex. To decipher some of the terminolgy and help explain the process we talked to Dr Emma Palmer, Clinical Geneticist.

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