A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

by Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees
Published 2014-04-01

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

by Costin Leu, Simona Balestrini, Bridget Maher, Laura Hernández-Hernández, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha Schoeler, Jan Novy, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O'Regan, William O. Pickrell, Rhys H. Thomas, Seo-Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya
Published 2015-09-01