SCN2A Overview

09/11/2019 20 min Episodio 1
SCN2A Overview

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Episode Synopsis

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 subscribe via Apple Podcasts.  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 See omnystudio.com/listener for privacy information.

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