SCN2A Insights

Genetic Testing


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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.

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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

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SCN2A InsightsBy SCN2A Australia

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