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SCN2A Overview
Manage episode 312495044 series 3236617
David Cunnington and SCN2A Australia에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 David Cunnington and SCN2A Australia 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
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
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28 에피소드
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