Afawi, Z.
Work
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus
Afawi, Z., Goldberg-Stern, H., Helbig, I., Hammer, M., Pendziwiat, M., Cumbay, Medhane, Johnstone, L., Pan, Y., and Cummins, T.
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...
Article
Work[remove]1
Article1
Afawi, Z.[remove]1
Cumbay, Medhane1
Cummins, T.1
Goldberg-Stern, H.1
Hammer, M.1
SCN1A-related epilepsy1
biophysical properties1
co-expressed variants1
modifier gene1
whole exome sequencing1
English1
International League Against Epilepsy1
Wiley1
20221
Faculty Publications and Research - MUCOM1
Marian University1