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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:eNeuro
Prif Awduron: Mason, Emily R., Wu, Fenfen, Patel, Reesha R., Xiao, Yucheng, Cannon, Stephen C., Cummins, Theodore R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Society for Neuroscience 2019
Pynciau:
New Research
Mynediad Ar-lein: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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