Mutant Plasticity Related Gene 1 (PRG1) acts as a potential modifier in SCN1A related epilepsy
Ellen Knierim, Johannes Vogt, Michael Kintscher, Alexey A. Ponomarenko, Jan Baumgart, Prateep Sanker Beed, Tatiana M. Korotkova, Thorsten Trimbuch, Axel Panzer, Ulrich Stephani, Andrew Escayg, Holger Lerche, Robert Nitsch, Dietmar Schmitz, Markus Schuelke
The paper identifies a PRG1 mutation that modifies SCN1A-related epilepsy in humans by exacerbating seizure susceptibility in a mouse model.
bioRxiv · Mar 15, 2018 · PreprintNeuroscience