To date, these mutations in NUP358 (c.3363G>T, p.K1121N; c.128A>T, p.D43V; c.5249C>G, p.P1750R; c.1754C>T, p.T585M; c.1350A>T, p.L450F) have been identified and are believed to contribute to the development of acute necrotizing encephalopathy type 1 (ANE1) (Neilson et al. 2009; Jiang et al. 2022; Bashiri et al. 2020; Chew and Ngu 2020). Here, RANBP2 is linked to familial acute necrotizing encephalopathy.