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SCN2A Overview
Manage episode 312495044 series 3236617
Contenido proporcionado por David Cunnington and SCN2A Australia. Todo el contenido del podcast, incluidos episodios, gráficos y descripciones de podcast, lo carga y proporciona directamente David Cunnington and SCN2A Australia o su socio de plataforma de podcast. Si cree que alguien está utilizando su trabajo protegido por derechos de autor sin su permiso, puede seguir el proceso descrito aquí https://es.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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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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