De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

著者: Krishna R. Veeramah, Janelle E. O’Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib‐Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer - The American Journal of Human Genetics 2012 被引用: 439