De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

By |2017-01-24T17:18:51-05:00January 24th, 2017|Categories: DSF Research Review|Tags: , |

(Myers, et. al. 2017). GEFS+ (Generalized Epilepsy with Febrile Seizures Plus) is somewhere near the middle of the spectrum of SCN1A-related disorders that places migraines or simple febrile seizures at the mild end and Dravet syndrome at the severe end. It has traditionally been thought of as a familial epilepsy syndrome because the mutations found [...]