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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...
Autores principales: | Mason, Emily R., Wu, Fenfen, Patel, Reesha R., Xiao, Yucheng, Cannon, Stephen C., Cummins, Theodore R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society for Neuroscience
2019
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Materias: | |
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 |
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