Index Catalog // MUShare

新搜索

筛选: 出版者

International League Against Epilepsy

Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

关键字匹配:

创造者:

Afawi, Z., Goldberg-Stern, H., Helbig, I., Hammer, M., Pendziwiat, M., Cumbay, Medhane, Johnstone, L., Pan, Y., and Cummins, T.

描述:

Objective: Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant...

类型:

Article