Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase

by Laura Hernández-Hernández, Laura Hernández-Hernández, Catalina Sanz, Catalina Sanz, Elena Marcos-Vadillo, Elena Marcos-Vadillo, Asunción García-Sánchez, Asunción García-Sánchez, Esther Moreno, Esther Moreno, Esther Moreno, Esther Moreno, Félix Lorente, Félix Lorente, Félix Lorente, David González-de-Olano, Ignacio Dávila, Ignacio Dávila, Ignacio Dávila, María Isidoro-García, María Isidoro-García, María Isidoro-García
Published 2021-04-01

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