A GABRB3 mutation (c.5G>A, p.Trp2*) in twins with generalized epilepsy with febrile seizures
Here, this study reports a case report of twins with febrile seizures, mostly occurring after fever, with seizures still occurring after the age of 6. This study collected peripheral blood from twins and their parents for whole-exome sequencing. The gene sequencing results showed that the twins and their father had a GABRB3 nonsense mutation (c.5G>A, p.Trp2*), which cause GABRB3 translation to terminate prematurely at the second tryptophan position.