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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Detalles Bibliográficos
Autores principales: Mason, Emily R., Wu, Fenfen, Patel, Reesha R., Xiao, Yucheng, Cannon, Stephen C., Cummins, Theodore R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Neuroscience 2019
Materias:
New Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6795554/
https://www.ncbi.nlm.nih.gov/pubmed/31558572
http://dx.doi.org/10.1523/ENEURO.0141-19.2019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6795554/
https://www.ncbi.nlm.nih.gov/pubmed/31558572
http://dx.doi.org/10.1523/ENEURO.0141-19.2019

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