SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood

SCN1A is arguably the most important epilepsy gene with vast clinical heterogeneity. Not only can different SCN1A variants result in variable epilepsy phenotypes, but the same variant, even within the one family, can result in very different clinical outcomes. We see no clearer example of this than in families with genetic epilepsy with febrile seizures plus (GEFS+).

Source: Epilepsy Research - February 3, 2017 Category: Neurology Authors: Sara Kivity, Karen L. Oliver, Zaid Afawi, John A. Damiano, Todor Arsov, Melanie Bahlo, Samuel F. Berkovic Source Type: research