A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS

摘要: Summary Familial febrile seizures occur in both generalized epilepsy with plus (GEFS+) and autosomal dominant (ADFS). The literature largely separates families GEFS+ from those ADFS. However, there is clinical overlap, ADFS also include individuals afebrile seizures. phenotypic spectrum of broader now than when first described, resulting unclear boundaries between these two familial syndromes. purpose this report to highlight the similarities A multigenerational family described features are compared previously reported families. This meets requirements for definition GEFS+. Linkage analysis has shown no clear linkage known seizure or loci. Despite locus heterogeneity, identified mutations have so far all been sodium channel γ-aminobutyric acid (GABA)–receptor genes, other modifier genes postulated affect individual phenotypes. implicated GEFS+, SCN1A, GABRG2. We conclude that it inappropriate separate at present given genotypic overlap.