De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
通过对患有婴儿癫痫性脑病和猝死（SUDEP）的四口之家进行全基因组测序，鉴定出一种新的致病性SCN8A突变。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.01.006.
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
