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Natural History Study
Manage episode 312495043 series 3236617
Innhold levert av David Cunnington and SCN2A Australia. Alt podcastinnhold, inkludert episoder, grafikk og podcastbeskrivelser, lastes opp og leveres direkte av David Cunnington and SCN2A Australia eller deres podcastplattformpartner. Hvis du tror at noen bruker det opphavsrettsbeskyttede verket ditt uten din tillatelse, kan du følge prosessen skissert her https://no.player.fm/legal.
Natural History Studies (NHS) are important in understanding the natural progression of a condition. This information can then be used to predict what may happen in the future when children are diagnosed with genetic epilepsies, and are essential when planning trials of treatment. We talk with Dr Katherine Howell, the principal investigator of the international SCN2A Natural History Study.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
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Links:
- SCN2A Encephalopathy – 2015
- Genetic and phenotypic heterogeneity in SCN2A – 2017 (Marcus Wolff)
- Email to register interest in participating in natural history study
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