Abstract
The etiologies of febrile seizures (FS), the syndrome of FS +, and the familial syndrome of genetic epilepsy with FS + (GEFS +) likely result from a combination of factors, including developmental, environmental, and genetic. Studies in twins and families highlight a significant role for genetics. In this chapter, we will discuss approaches to defining the genetics of FS, FS +, and GEFS + and the current understanding of their genetic landscape. We highlight the known single-gene causes of FS +/GEFS + identified by sequencing in large families, which include SCN1A, SCN1B, GARBG2, and STX1B. We discuss several genes with more limited evidence that will require further studies to confirm a role in FS +/GEFS +. Finally, we discuss clinical testing options and strategies for individuals with FS +/GEFS + phenotypes.
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