Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus
全外显子组测序和共表达分析发现了一种SCN1A变异，该变异改变了一个患有遗传性癫痫和热性惊厥家族的致病性。
期刊:Epilepsia
影响因子:6.6
doi:10.1111/epi.17296
Hammer, Michael F; Pan, Yanling; Cumbay, Medhane; Pendziwiat, Manuela; Afawi, Zaid; Goldberg-Stern, Hadassah; Johnstone, Laurel; Helbig, Ingo; Cummins, Theodore R
