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SCN2A Overview
Manage episode 312495044 series 3236617
Conteúdo fornecido por David Cunnington and SCN2A Australia. Todo o conteúdo do podcast, incluindo episódios, gráficos e descrições de podcast, é carregado e fornecido diretamente por David Cunnington and SCN2A Australia ou por seu parceiro de plataforma de podcast. Se você acredita que alguém está usando seu trabalho protegido por direitos autorais sem sua permissão, siga o processo descrito aqui https://pt.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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