A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.
Suzumoto Y, Columbano V, Gervasi L, Giunta R, Mattina T, Trimarchi G, Capolongo G, Simeoni M, Perna AF, Zacchia M, Toriello G, Pollastro RM, Rapisarda F, Capasso G, Trepiccione F.
Suzumoto Y, et al. Among authors: simeoni m.
Intractable Rare Dis Res. 2021 May;10(2):95-101. doi: 10.5582/irdr.2020.03158.
Intractable Rare Dis Res. 2021.
PMID: 33996354
Free PMC article.