PhysiologyBiochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePeer-reviewed
Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy
Shir Quinn, Nan Zhang, Timothy A. Fenton…·Moran Rubinstein
This study characterizes the biophysical and neurophysiological effects of the SCN8A p.(Gly1625Arg) mutation, showing a complex mix of gain-and loss-of-function properties leading to reduced neuronal firing.
10 citations