New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Anna Bode, Sian-Elin Wood, Jonathan G L Mullins, Angelo Keramidas, Thomas D Cushion, Rhys H Thomas, William O Pickrell, Cheney J G Drew, Amira Masri, Elizabeth A Jones, Grace Vassallo, Alfred P Born, Fusun Alehan, Sharon Aharoni, Gerald Bannasch, Marius Bartsch, Bulent Kara, Amanda Krause, Elie G Karam, Stephanie Matta, Vivek Jain, Hanna Mandel, Michael Freilinger, Gail E Graham, Emma Hobson, Sue Chatfield, Catherine Vincent-Delorme, Jubran E Rahme, Zaid Afawi, Samuel F Berkovic, Owain W Howell, Jean-François Vanbellinghen, Mark I Rees, Seo-Kyung Chung, Joseph W Lynch
The Journal of biological chemistry 2014;288(47):33745-33759