Wigabatrina w leczeniu zespołu spastycznych napadów epilepsji niemowlęcej związanego z wariantem SCN2A R853Q: ograniczona skuteczność i zwiększone ryzyko zmian mózgowych

Abstract Background Infantile epilepsy spasms syndrome (IESS) caused by the SCN2A R853Q loss-of-function (LOF) mutation is refractory or resistant. Vigabatrin (VGB) is a common treatment for IESS, but it carries a risk of Vigabatrin-Associated Brain Abnormalities on MRI (VABAM). This study investigates the efficacy and safety of VGB in infants with IESS caused by the SCN2A R853Q mutation. Results Three infants with SCN2A R853Q-related IESS exhibited multifarious seizure types and poor seizure control with VGB and other anti-seizure medications (ASMs). Alarmingly, all three developed VABAM within 31–60 days of VGB initiation, a significantly shorter timeframe than previously reported, even at lower therapeutic doses. Conclusion The SCN2A R853Q mutation appears to confer a high genetic susceptibility to VABAM, leading to an unfavorable risk-benefit profile for VGB in this specific patient subgroup. The limited efficacy and rapid onset of VABAM at a lower dose suggest that VGB should be used with caution, and alternative treatment strategies should be prioritized for SCN2A R853Q-related IESS.