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whole exome sequencing

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

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Creator:

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

Description:

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...

Type:

Article