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Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations

Over 150 mutations in the SCN2A gene, which encodes the neuronal Nav1.2 protein, have been implicated in human epilepsy cases. Of these, R1882Q and R853Q are two of the most commonly reported mutations. This study utilized voltage-clamp electrophysiology to characterize the biophysical effects of th...

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Detalhes bibliográficos
Publicado no:eNeuro
Main Authors: Mason, Emily R., Wu, Fenfen, Patel, Reesha R., Xiao, Yucheng, Cannon, Stephen C., Cummins, Theodore R.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6795554/
https://ncbi.nlm.nih.gov/pubmed/31558572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/ENEURO.0141-19.2019
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